'en:calcinuria'
(id=14925751 ; fe=en:calcinuria ; type=1 ; niveau=200 ;
luminosité=25 ;
somme entrante=23985 creation date=2020-09-26 touchdate=2025-11-02 04:47:56.000) ≈ 2321 relations sortantes
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:2,8-dihydroxyadenine (dha) urinary stones
n1=en:calcinuria | n2=en:2,8-dihydroxyadenine (dha) urinary stones | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal bone marrow karyotype, t(8,21)
n1=en:calcinuria | n2=en:abnormal bone marrow karyotype, t(8,21) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans
n1=en:calcinuria | n2=en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)
n1=en:calcinuria | n2=en:abnormal isoelectric focusing of serum transferrin (type 2 pattern) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal karyotype in 3 patients involving distal 6p
n1=en:calcinuria | n2=en:abnormal karyotype in 3 patients involving distal 6p | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23)
n1=en:calcinuria | n2=en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal liver enzymes in those with hepatic cysts or fibrosis
n1=en:calcinuria | n2=en:abnormal liver enzymes in those with hepatic cysts or fibrosis | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal n-glycosylation of transferrin
n1=en:calcinuria | n2=en:abnormal n-glycosylation of transferrin | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal oral glucose tolerance
n1=en:calcinuria | n2=en:abnormal oral glucose tolerance | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:abnormal urinary oligosaccharides
n1=en:calcinuria | n2=en:abnormal urinary oligosaccharides | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:absence of hepatic udp-glucuronyl-transferase
n1=en:calcinuria | n2=en:absence of hepatic udp-glucuronyl-transferase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:absent tyrosinase activity
n1=en:calcinuria | n2=en:absent tyrosinase activity | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes
n1=en:calcinuria | n2=en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:acetylcholinesterase staining reveals nerve trunk hypertrophy
n1=en:calcinuria | n2=en:acetylcholinesterase staining reveals nerve trunk hypertrophy | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:aldosterone concentration below normal
n1=en:calcinuria | n2=en:aldosterone concentration below normal | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:alpha fetoprotein increased
n1=en:calcinuria | n2=en:alpha fetoprotein increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:anti-factor viii positive
n1=en:calcinuria | n2=en:anti-factor viii positive | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:aspartylglycosaminuria
n1=en:calcinuria | n2=en:aspartylglycosaminuria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:axonemes show normal structure
n1=en:calcinuria | n2=en:axonemes show normal structure | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:azotemia
n1=en:calcinuria | n2=en:azotemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:bicarbonaturia
n1=en:calcinuria | n2=en:bicarbonaturia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:blood glucose normal
n1=en:calcinuria | n2=en:blood glucose normal | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:breastfed offspring have transient decrease of plasma zinc levels
n1=en:calcinuria | n2=en:breastfed offspring have transient decrease of plasma zinc levels | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:c-band karyotype shows 'railroad track' appearance
n1=en:calcinuria | n2=en:c-band karyotype shows 'railroad track' appearance | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:calciuria
n1=en:calcinuria | n2=en:calciuria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:cellular arrest at g2 of the cell cycle
n1=en:calcinuria | n2=en:cellular arrest at g2 of the cell cycle | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:cholesterol normal
n1=en:calcinuria | n2=en:cholesterol normal | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:d-2-hydroxyglutaric aciduria
n1=en:calcinuria | n2=en:d-2-hydroxyglutaric aciduria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decrease plasma serine (fasting)
n1=en:calcinuria | n2=en:decrease plasma serine (fasting) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased activities of multiple sulfatases
n1=en:calcinuria | n2=en:decreased activities of multiple sulfatases | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)
n1=en:calcinuria | n2=en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased activity of aromatic l-amino acid decarboxylase (aadc)
n1=en:calcinuria | n2=en:decreased activity of aromatic l-amino acid decarboxylase (aadc) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased activity of the pyruvate dehydrogenase (pdh) complex
n1=en:calcinuria | n2=en:decreased activity of the pyruvate dehydrogenase (pdh) complex | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)
n1=en:calcinuria | n2=en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes
n1=en:calcinuria | n2=en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased csf 5-hydroxyindoleacetic acid (5-hiaa)
n1=en:calcinuria | n2=en:decreased csf 5-hydroxyindoleacetic acid (5-hiaa) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased eno3 activity
n1=en:calcinuria | n2=en:decreased eno3 activity | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased hepatic udp-glucuronyl-transferase activity
n1=en:calcinuria | n2=en:decreased hepatic udp-glucuronyl-transferase activity | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased levels of csf hypocretin (hcrt, 602358)
n1=en:calcinuria | n2=en:decreased levels of csf hypocretin (hcrt, 602358) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased levels of serum vitamin b12
n1=en:calcinuria | n2=en:decreased levels of serum vitamin b12 | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased mitochondrial nadp(h)
n1=en:calcinuria | n2=en:decreased mitochondrial nadp(h) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased mitochondrial respiratory chain complex (2p21del)
n1=en:calcinuria | n2=en:decreased mitochondrial respiratory chain complex (2p21del) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased neopterin and biopterin in csf
n1=en:calcinuria | n2=en:decreased neopterin and biopterin in csf | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased or absent glycogen branching enzyme activity
n1=en:calcinuria | n2=en:decreased or absent glycogen branching enzyme activity | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased or low-normal serum parathyroid hormone (pth)
n1=en:calcinuria | n2=en:decreased or low-normal serum parathyroid hormone (pth) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased plasma and urinary guanidinoacetate (gaa)
n1=en:calcinuria | n2=en:decreased plasma and urinary guanidinoacetate (gaa) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased plasma free carnitine
n1=en:calcinuria | n2=en:decreased plasma free carnitine | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased serum cholesterol (in some)
n1=en:calcinuria | n2=en:decreased serum cholesterol (in some) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased serum follicle-stimulating hormone (fsh)
n1=en:calcinuria | n2=en:decreased serum follicle-stimulating hormone (fsh) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity
n1=en:calcinuria | n2=en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased telomere length in lymphocytes
n1=en:calcinuria | n2=en:decreased telomere length in lymphocytes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased testosterone level
n1=en:calcinuria | n2=en:decreased testosterone level | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased tetrasialotransferrin levels
n1=en:calcinuria | n2=en:decreased tetrasialotransferrin levels | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased thyroxine level
n1=en:calcinuria | n2=en:decreased thyroxine level | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased tissue and serum alkaline phosphatase
n1=en:calcinuria | n2=en:decreased tissue and serum alkaline phosphatase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:decreased von willebrand factor
n1=en:calcinuria | n2=en:decreased von willebrand factor | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:defect in retrograde intraflagellar transport in cilia
n1=en:calcinuria | n2=en:defect in retrograde intraflagellar transport in cilia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:deficiency of alpha-1,4-glucosidase (acid maltase)
n1=en:calcinuria | n2=en:deficiency of alpha-1,4-glucosidase (acid maltase) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:deficiency or absence of cytochrome b(-245)
n1=en:calcinuria | n2=en:deficiency or absence of cytochrome b(-245) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:deficiency or absence of p91-phox (300481) protein
n1=en:calcinuria | n2=en:deficiency or absence of p91-phox (300481) protein | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:dehydration
n1=en:calcinuria | n2=en:dehydration | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye
n1=en:calcinuria | n2=en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes
n1=en:calcinuria | n2=en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:depletion of mtdna (skeletal muscle, fibroblasts)
n1=en:calcinuria | n2=en:depletion of mtdna (skeletal muscle, fibroblasts) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:dimethylglycine dehydrogenase (dmgdh) deficiency
n1=en:calcinuria | n2=en:dimethylglycine dehydrogenase (dmgdh) deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:distal xp22.3 segmental monosomy
n1=en:calcinuria | n2=en:distal xp22.3 segmental monosomy | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated 17-hydroxyprogesterone
n1=en:calcinuria | n2=en:elevated 17-hydroxyprogesterone | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated 2-ketoglutarate (urine)
n1=en:calcinuria | n2=en:elevated 2-ketoglutarate (urine) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated ammonia
n1=en:calcinuria | n2=en:elevated ammonia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated antinuclear antibody (ana) (speckled pattern)
n1=en:calcinuria | n2=en:elevated antinuclear antibody (ana) (speckled pattern) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated branched-chain amino acids (in most patients)
n1=en:calcinuria | n2=en:elevated branched-chain amino acids (in most patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated catecholamines (in patients with pheochromocytoma)
n1=en:calcinuria | n2=en:elevated catecholamines (in patients with pheochromocytoma) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated creatine kinase (in some patients)
n1=en:calcinuria | n2=en:elevated creatine kinase (in some patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated csf glycine
n1=en:calcinuria | n2=en:elevated csf glycine | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated erythrocyte adenosine deaminase
n1=en:calcinuria | n2=en:elevated erythrocyte adenosine deaminase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated erythrocyte adenosine deaminase (eada)
n1=en:calcinuria | n2=en:elevated erythrocyte adenosine deaminase (eada) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated fasting glucose
n1=en:calcinuria | n2=en:elevated fasting glucose | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated ferritin l subunit
n1=en:calcinuria | n2=en:elevated ferritin l subunit | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated liver transaminases
n1=en:calcinuria | n2=en:elevated liver transaminases | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated plasma and urine succinylacetone
n1=en:calcinuria | n2=en:elevated plasma and urine succinylacetone | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated plasma estrogen
n1=en:calcinuria | n2=en:elevated plasma estrogen | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated serum alpha-fetoprotein
n1=en:calcinuria | n2=en:elevated serum alpha-fetoprotein | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated serum lactate
n1=en:calcinuria | n2=en:elevated serum lactate | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated sweat chloride (some)
n1=en:calcinuria | n2=en:elevated sweat chloride (some) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated urinary free sialic acid (n-acetylneuraminic acid)
n1=en:calcinuria | n2=en:elevated urinary free sialic acid (n-acetylneuraminic acid) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated urinary hyaluronic acid levels
n1=en:calcinuria | n2=en:elevated urinary hyaluronic acid levels | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated urinary n,n-dimethylglycine (dmg)
n1=en:calcinuria | n2=en:elevated urinary n,n-dimethylglycine (dmg) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:elevated urine ceramide levels
n1=en:calcinuria | n2=en:elevated urine ceramide levels | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:fibrinogen decreased
n1=en:calcinuria | n2=en:fibrinogen decreased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712)
n1=en:calcinuria | n2=en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:gamma-glutamylcysteine deficiency
n1=en:calcinuria | n2=en:gamma-glutamylcysteine deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system
n1=en:calcinuria | n2=en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:glycogen storage disease type vii
n1=en:calcinuria | n2=en:glycogen storage disease type vii | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells
n1=en:calcinuria | n2=en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:guanidinoacetate methyltransferase (gamt) deficiency
n1=en:calcinuria | n2=en:guanidinoacetate methyltransferase (gamt) deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hepatic gamma-cystathionase deficiency
n1=en:calcinuria | n2=en:hepatic gamma-cystathionase deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hereditary xanthinuria
n1=en:calcinuria | n2=en:hereditary xanthinuria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:holocarboxylase synthetase deficiency
n1=en:calcinuria | n2=en:holocarboxylase synthetase deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:homocysteinemia (in some patients)
n1=en:calcinuria | n2=en:homocysteinemia (in some patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hyperbilirubinemia, unconjugated, <20mg/dl
n1=en:calcinuria | n2=en:hyperbilirubinemia, unconjugated, <20mg/dl | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hyperglycemias, postprandial
n1=en:calcinuria | n2=en:hyperglycemias, postprandial | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hyperglycolic aciduria
n1=en:calcinuria | n2=en:hyperglycolic aciduria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hyperlipoproteinemia type i
n1=en:calcinuria | n2=en:hyperlipoproteinemia type i | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypertriglyceridemia
n1=en:calcinuria | n2=en:hypertriglyceridemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hyperuricemia
n1=en:calcinuria | n2=en:hyperuricemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypobetalipoproteinemias
n1=en:calcinuria | n2=en:hypobetalipoproteinemias | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypocalcemia
n1=en:calcinuria | n2=en:hypocalcemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypocalcemia, transient
n1=en:calcinuria | n2=en:hypocalcemia, transient | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypocalciuria
n1=en:calcinuria | n2=en:hypocalciuria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypocalciuria or normocalciuria
n1=en:calcinuria | n2=en:hypocalciuria or normocalciuria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypokalemia during attacks
n1=en:calcinuria | n2=en:hypokalemia during attacks | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypomethylation of alpha-satellite repeats on chromosome 9
n1=en:calcinuria | n2=en:hypomethylation of alpha-satellite repeats on chromosome 9 | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hyposthenuria (inability to concentrate urine normally)
n1=en:calcinuria | n2=en:hyposthenuria (inability to concentrate urine normally) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:hypouricemia
n1=en:calcinuria | n2=en:hypouricemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise
n1=en:calcinuria | n2=en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased acetoacetate: beta-hydroxybutyrate ratio (group b)
n1=en:calcinuria | n2=en:increased acetoacetate: beta-hydroxybutyrate ratio (group b) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased acetylcholinesterase (ache) in amniotic fluid
n1=en:calcinuria | n2=en:increased acetylcholinesterase (ache) in amniotic fluid | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased alpha-fetoprotein (1 patient)
n1=en:calcinuria | n2=en:increased alpha-fetoprotein (1 patient) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased ammonia with exercise
n1=en:calcinuria | n2=en:increased ammonia with exercise | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased bone serum acid phosphatase
n1=en:calcinuria | n2=en:increased bone serum acid phosphatase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased cellular sensitivity to uv light
n1=en:calcinuria | n2=en:increased cellular sensitivity to uv light | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased cerebrospinal fluid (csf) protein (>100mg/dl)
n1=en:calcinuria | n2=en:increased cerebrospinal fluid (csf) protein (>100mg/dl) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased cholesterol
n1=en:calcinuria | n2=en:increased cholesterol | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased csf interferon
n1=en:calcinuria | n2=en:increased csf interferon | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased csf protein during acute illness
n1=en:calcinuria | n2=en:increased csf protein during acute illness | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased csf, plasma, and urinary l-dopa
n1=en:calcinuria | n2=en:increased csf, plasma, and urinary l-dopa | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased fractional excretion of urate (greater than 50%)
n1=en:calcinuria | n2=en:increased fractional excretion of urate (greater than 50%) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased lactate: pyruvate ratio (group b)
n1=en:calcinuria | n2=en:increased lactate: pyruvate ratio (group b) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased nasal-potential difference (1 of 3 patients)
n1=en:calcinuria | n2=en:increased nasal-potential difference (1 of 3 patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased peripheral blood monocytes
n1=en:calcinuria | n2=en:increased peripheral blood monocytes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased plasma phytanic acid
n1=en:calcinuria | n2=en:increased plasma phytanic acid | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased plasma pristanic acid
n1=en:calcinuria | n2=en:increased plasma pristanic acid | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased pyruvate in serum and csf
n1=en:calcinuria | n2=en:increased pyruvate in serum and csf | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased rai (radioactive iodine) uptake
n1=en:calcinuria | n2=en:increased rai (radioactive iodine) uptake | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum acyl carnitines
n1=en:calcinuria | n2=en:increased serum acyl carnitines | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum aryl-sulfatase a (10-20x)
n1=en:calcinuria | n2=en:increased serum aryl-sulfatase a (10-20x) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum c-reactive protein, episodic
n1=en:calcinuria | n2=en:increased serum c-reactive protein, episodic | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum creatine kinase during episodes
n1=en:calcinuria | n2=en:increased serum creatine kinase during episodes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum direct bilirubin
n1=en:calcinuria | n2=en:increased serum direct bilirubin | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum erythropoietin (epo, 133170)
n1=en:calcinuria | n2=en:increased serum erythropoietin (epo, 133170) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum ferritin
n1=en:calcinuria | n2=en:increased serum ferritin | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum gamma-ggt (231950)
n1=en:calcinuria | n2=en:increased serum gamma-ggt (231950) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum lactate in acute stage
n1=en:calcinuria | n2=en:increased serum lactate in acute stage | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum pancreatic secretory trypsin inhibitor (psti)
n1=en:calcinuria | n2=en:increased serum pancreatic secretory trypsin inhibitor (psti) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum pyruvate, mild
n1=en:calcinuria | n2=en:increased serum pyruvate, mild | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum triglycerides (in some patients)
n1=en:calcinuria | n2=en:increased serum triglycerides (in some patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased serum vitamin b12
n1=en:calcinuria | n2=en:increased serum vitamin b12 | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased susceptibility to ebv infection
n1=en:calcinuria | n2=en:increased susceptibility to ebv infection | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased total bilirubin may occur
n1=en:calcinuria | n2=en:increased total bilirubin may occur | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased uracil and dihydrouracil in bodily fluids
n1=en:calcinuria | n2=en:increased uracil and dihydrouracil in bodily fluids | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary 2-ketoglutarate (variable)
n1=en:calcinuria | n2=en:increased urinary 2-ketoglutarate (variable) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary 2-methyl-3 hydroxybutyrate
n1=en:calcinuria | n2=en:increased urinary 2-methyl-3 hydroxybutyrate | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary and serum glycine
n1=en:calcinuria | n2=en:increased urinary and serum glycine | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary carnitine esters
n1=en:calcinuria | n2=en:increased urinary carnitine esters | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary creatine-to-creatinine ratio
n1=en:calcinuria | n2=en:increased urinary creatine-to-creatinine ratio | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary glycerol
n1=en:calcinuria | n2=en:increased urinary glycerol | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks
n1=en:calcinuria | n2=en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary potassium
n1=en:calcinuria | n2=en:increased urinary potassium | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:increased urinary, plasma, and csf dihydrouracil
n1=en:calcinuria | n2=en:increased urinary, plasma, and csf dihydrouracil | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:intracellular fingerprint profiles on ultrastructural analysis
n1=en:calcinuria | n2=en:intracellular fingerprint profiles on ultrastructural analysis | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)
n1=en:calcinuria | n2=en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:iron low
n1=en:calcinuria | n2=en:iron low | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:isovaleric acidemia
n1=en:calcinuria | n2=en:isovaleric acidemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:karyomegaly may be found in other visceral organs
n1=en:calcinuria | n2=en:karyomegaly may be found in other visceral organs | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:karyotype analysis normal finding
n1=en:calcinuria | n2=en:karyotype analysis normal finding | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:ketonuria
n1=en:calcinuria | n2=en:ketonuria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:leukocytosis
n1=en:calcinuria | n2=en:leukocytosis | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:liver transaminases normal to slightly increased
n1=en:calcinuria | n2=en:liver transaminases normal to slightly increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low alkaline phosphatase
n1=en:calcinuria | n2=en:low alkaline phosphatase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low density lipoprotein increased
n1=en:calcinuria | n2=en:low density lipoprotein increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low fasting glucose (in some patients)
n1=en:calcinuria | n2=en:low fasting glucose (in some patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein
n1=en:calcinuria | n2=en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low or absent adrenocorticotropic hormone (acth) in some patients
n1=en:calcinuria | n2=en:low or absent adrenocorticotropic hormone (acth) in some patients | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low or normal serum igm
n1=en:calcinuria | n2=en:low or normal serum igm | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low plasma free and total carnitine
n1=en:calcinuria | n2=en:low plasma free and total carnitine | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low serum acth
n1=en:calcinuria | n2=en:low serum acth | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low serum concentration of intercellular adhesion molecule 1 (icam1)
n1=en:calcinuria | n2=en:low serum concentration of intercellular adhesion molecule 1 (icam1) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low serum levels of branched-chain amino acids
n1=en:calcinuria | n2=en:low serum levels of branched-chain amino acids | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low to absent high density lipoprotein (hdl) (detroit 107680.0011)
n1=en:calcinuria | n2=en:low to absent high density lipoprotein (hdl) (detroit 107680.0011) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low-normal igm
n1=en:calcinuria | n2=en:low-normal igm | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low-normal platelet count (89-290 x 10(9)/l)
n1=en:calcinuria | n2=en:low-normal platelet count (89-290 x 10(9)/l) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low-to-normal csf lactate
n1=en:calcinuria | n2=en:low-to-normal csf lactate | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:low-to-normal platelet count
n1=en:calcinuria | n2=en:low-to-normal platelet count | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:may have increased serum parathyroid hormone (pth)
n1=en:calcinuria | n2=en:may have increased serum parathyroid hormone (pth) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:metachromatic leukodystrophy due to saposin b deficiency
n1=en:calcinuria | n2=en:metachromatic leukodystrophy due to saposin b deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:methionine adenosyltransferase deficiency
n1=en:calcinuria | n2=en:methionine adenosyltransferase deficiency | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:mild elevation of cholesterol
n1=en:calcinuria | n2=en:mild elevation of cholesterol | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:mildly abnormal glycosylation of serum transferrin, type 1 pattern
n1=en:calcinuria | n2=en:mildly abnormal glycosylation of serum transferrin, type 1 pattern | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:mildly elevated creatine phosphokinase
n1=en:calcinuria | n2=en:mildly elevated creatine phosphokinase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:mitochondrial deletions
n1=en:calcinuria | n2=en:mitochondrial deletions | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:multi-tailed spermatozoa
n1=en:calcinuria | n2=en:multi-tailed spermatozoa | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology
n1=en:calcinuria | n2=en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients)
n1=en:calcinuria | n2=en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:neutropenia (in 1 patient)
n1=en:calcinuria | n2=en:neutropenia (in 1 patient) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:no histochemical evidence of mitochondrial myopathy.
n1=en:calcinuria | n2=en:no histochemical evidence of mitochondrial myopathy. | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:no ketosis
n1=en:calcinuria | n2=en:no ketosis | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal collagen type i studies
n1=en:calcinuria | n2=en:normal collagen type i studies | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal concentration of parathyroid hormone
n1=en:calcinuria | n2=en:normal concentration of parathyroid hormone | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal csf 5-hiaa
n1=en:calcinuria | n2=en:normal csf 5-hiaa | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal csf neurotransmitters
n1=en:calcinuria | n2=en:normal csf neurotransmitters | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal igm levels
n1=en:calcinuria | n2=en:normal igm levels | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal leukocyte and platelet counts
n1=en:calcinuria | n2=en:normal leukocyte and platelet counts | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal levels of complement factor h, but impaired function
n1=en:calcinuria | n2=en:normal levels of complement factor h, but impaired function | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal mitochondrial respiratory chain complex i-v (hcs)
n1=en:calcinuria | n2=en:normal mitochondrial respiratory chain complex i-v (hcs) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal or decreased serum potassium
n1=en:calcinuria | n2=en:normal or decreased serum potassium | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340)
n1=en:calcinuria | n2=en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal or mildly decreased arylsulfatase a activity
n1=en:calcinuria | n2=en:normal or mildly decreased arylsulfatase a activity | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal or mildly reduced serum cobalamin
n1=en:calcinuria | n2=en:normal or mildly reduced serum cobalamin | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal platelet aggregation with adp, collagen, epinephrine
n1=en:calcinuria | n2=en:normal platelet aggregation with adp, collagen, epinephrine | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal serum creatine kinase
n1=en:calcinuria | n2=en:normal serum creatine kinase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal to increased plasma threonine
n1=en:calcinuria | n2=en:normal to increased plasma threonine | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal to mildly increased mucopolysacchariduria
n1=en:calcinuria | n2=en:normal to mildly increased mucopolysacchariduria | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal total urinary coproporphyrin
n1=en:calcinuria | n2=en:normal total urinary coproporphyrin | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:normal urinary 17-ketosteroids
n1=en:calcinuria | n2=en:normal urinary 17-ketosteroids | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:partial deficiency of factor xii(c)
n1=en:calcinuria | n2=en:partial deficiency of factor xii(c) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:phospholipid antibody positive
n1=en:calcinuria | n2=en:phospholipid antibody positive | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver
n1=en:calcinuria | n2=en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:phosphorylase kinase normal in muscle
n1=en:calcinuria | n2=en:phosphorylase kinase normal in muscle | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:phytanic acid accumulation
n1=en:calcinuria | n2=en:phytanic acid accumulation | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:phytanic acid increased
n1=en:calcinuria | n2=en:phytanic acid increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:plasma triglycerides increased
n1=en:calcinuria | n2=en:plasma triglycerides increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:positive urinary bratton-marshall test
n1=en:calcinuria | n2=en:positive urinary bratton-marshall test | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:predominance of the d-stereoisomer
n1=en:calcinuria | n2=en:predominance of the d-stereoisomer | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes
n1=en:calcinuria | n2=en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:prothrombin time increased
n1=en:calcinuria | n2=en:prothrombin time increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:reactive hypoglycemia
n1=en:calcinuria | n2=en:reactive hypoglycemia | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:reduced aspartoacylase activity in cultured skin fibroblasts
n1=en:calcinuria | n2=en:reduced aspartoacylase activity in cultured skin fibroblasts | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:renin decreased
n1=en:calcinuria | n2=en:renin decreased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum acylcarnitine returns to borderline high or normal after resolution of fever
n1=en:calcinuria | n2=en:serum acylcarnitine returns to borderline high or normal after resolution of fever | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum calcium elevated
n1=en:calcinuria | n2=en:serum calcium elevated | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum creatine kinase 20-70 times normal
n1=en:calcinuria | n2=en:serum creatine kinase 20-70 times normal | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum folate normal
n1=en:calcinuria | n2=en:serum folate normal | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum gastrin increased
n1=en:calcinuria | n2=en:serum gastrin increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum iron raised
n1=en:calcinuria | n2=en:serum iron raised | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum prolactin increased
n1=en:calcinuria | n2=en:serum prolactin increased | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:serum thiamine is normal
n1=en:calcinuria | n2=en:serum thiamine is normal | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:severe amyloid angiopathy
n1=en:calcinuria | n2=en:severe amyloid angiopathy | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:severely impaired ciliary motility
n1=en:calcinuria | n2=en:severely impaired ciliary motility | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:tay-sachs disease
n1=en:calcinuria | n2=en:tay-sachs disease | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:thyroid dyshormonogenesis 4
n1=en:calcinuria | n2=en:thyroid dyshormonogenesis 4 | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:thyroid peroxidase defect
n1=en:calcinuria | n2=en:thyroid peroxidase defect | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:translocation of chromosomes 9 and 13
n1=en:calcinuria | n2=en:translocation of chromosomes 9 and 13 | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340)
n1=en:calcinuria | n2=en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340) | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:unprocessed 3-oxoacyl coa thiolase
n1=en:calcinuria | n2=en:unprocessed 3-oxoacyl coa thiolase | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
en:very long chain fatty acid accumulation
n1=en:calcinuria | n2=en:very long chain fatty acid accumulation | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
hypercalciurie
n1=en:calcinuria | n2=hypercalciurie | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 30 / 1 ->
lithiase rénale
n1=en:calcinuria | n2=lithiase rénale | rel=r_associated | relid=0 | w=30
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:4-hydroxyphenylacetic aciduria
n1=en:calcinuria | n2=en:4-hydroxyphenylacetic aciduria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:4-hydroxyphenylpyruvic aciduria
n1=en:calcinuria | n2=en:4-hydroxyphenylpyruvic aciduria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:85-90% dgs patients have deletion of 22q11.2
n1=en:calcinuria | n2=en:85-90% dgs patients have deletion of 22q11.2 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:aberrant gamma-interferon-mediated inflammation
n1=en:calcinuria | n2=en:aberrant gamma-interferon-mediated inflammation | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:abnormal liver enzymes, intermittent (1 patient)
n1=en:calcinuria | n2=en:abnormal liver enzymes, intermittent (1 patient) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:abnormal serum liver enzyme levels
n1=en:calcinuria | n2=en:abnormal serum liver enzyme levels | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation)
n1=en:calcinuria | n2=en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:abnormal urinary compounds
n1=en:calcinuria | n2=en:abnormal urinary compounds | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:absence of chylomicrons in lymph and plasma
n1=en:calcinuria | n2=en:absence of chylomicrons in lymph and plasma | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:absent dystrophin on muscle biopsy
n1=en:calcinuria | n2=en:absent dystrophin on muscle biopsy | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:absent platelet agglutination in presence of ristocetin
n1=en:calcinuria | n2=en:absent platelet agglutination in presence of ristocetin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts
n1=en:calcinuria | n2=en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids
n1=en:calcinuria | n2=en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts
n1=en:calcinuria | n2=en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:acute hyperammonemia
n1=en:calcinuria | n2=en:acute hyperammonemia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:aldolase a deficiency
n1=en:calcinuria | n2=en:aldolase a deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:aminoadipic semialdehyde synthase (aass) deficiency
n1=en:calcinuria | n2=en:aminoadipic semialdehyde synthase (aass) deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:appropriately increased serum 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:appropriately increased serum 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:azoospermia/oligospermia (present at diagnosis)
n1=en:calcinuria | n2=en:azoospermia/oligospermia (present at diagnosis) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11)
n1=en:calcinuria | n2=en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:bile contains cholesterol crystals
n1=en:calcinuria | n2=en:bile contains cholesterol crystals | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:chondroitin 4-, 6-sulfate excretion in urine
n1=en:calcinuria | n2=en:chondroitin 4-, 6-sulfate excretion in urine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:cilia show inner and outer dynein arm defects
n1=en:calcinuria | n2=en:cilia show inner and outer dynein arm defects | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:creatine decreased
n1=en:calcinuria | n2=en:creatine decreased | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:cytochrome c oxidase deficiency in skeletal muscle and brain
n1=en:calcinuria | n2=en:cytochrome c oxidase deficiency in skeletal muscle and brain | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)
n1=en:calcinuria | n2=en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%)
n1=en:calcinuria | n2=en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased activity of complement factor d
n1=en:calcinuria | n2=en:decreased activity of complement factor d | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased activity of pyruvate dehydrogenase complex
n1=en:calcinuria | n2=en:decreased activity of pyruvate dehydrogenase complex | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased alpha-n-acetylgalactosaminidase protein
n1=en:calcinuria | n2=en:decreased alpha-n-acetylgalactosaminidase protein | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts
n1=en:calcinuria | n2=en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased asparagine levels (in some patients)
n1=en:calcinuria | n2=en:decreased asparagine levels (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased b cells
n1=en:calcinuria | n2=en:decreased b cells | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased c3 activity
n1=en:calcinuria | n2=en:decreased c3 activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased cerebrospinal fluid folic acid
n1=en:calcinuria | n2=en:decreased cerebrospinal fluid folic acid | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased cholesterol (less common)
n1=en:calcinuria | n2=en:decreased cholesterol (less common) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased conversion of beta-carotene to vitamin a (retinol)
n1=en:calcinuria | n2=en:decreased conversion of beta-carotene to vitamin a (retinol) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased copper, iron, zinc
n1=en:calcinuria | n2=en:decreased copper, iron, zinc | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)
n1=en:calcinuria | n2=en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg)
n1=en:calcinuria | n2=en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values
n1=en:calcinuria | n2=en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells
n1=en:calcinuria | n2=en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased fbp1 enzyme activity
n1=en:calcinuria | n2=en:decreased fbp1 enzyme activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased fumarate hydratase activity
n1=en:calcinuria | n2=en:decreased fumarate hydratase activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased hdl cholesterol
n1=en:calcinuria | n2=en:decreased hdl cholesterol | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased lipid-linked oligosaccharides (llo)
n1=en:calcinuria | n2=en:decreased lipid-linked oligosaccharides (llo) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts)
n1=en:calcinuria | n2=en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased natural killer cells
n1=en:calcinuria | n2=en:decreased natural killer cells | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased or absent dihydropteridine reductase activity
n1=en:calcinuria | n2=en:decreased or absent dihydropteridine reductase activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased or absent gch1 activity
n1=en:calcinuria | n2=en:decreased or absent gch1 activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased or absent steroid sulfatase activity
n1=en:calcinuria | n2=en:decreased or absent steroid sulfatase activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased phk activity in liver
n1=en:calcinuria | n2=en:decreased phk activity in liver | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased plasma gonadotrophin
n1=en:calcinuria | n2=en:decreased plasma gonadotrophin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased plasma lpl levels (in some patients)
n1=en:calcinuria | n2=en:decreased plasma lpl levels (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)
n1=en:calcinuria | n2=en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased serum alpha-2 macroglobulin levels
n1=en:calcinuria | n2=en:decreased serum alpha-2 macroglobulin levels | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased serum c3 (atypical hus)
n1=en:calcinuria | n2=en:decreased serum c3 (atypical hus) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased serum haptoglobin (in some patients)
n1=en:calcinuria | n2=en:decreased serum haptoglobin (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased serum levels of maoa products
n1=en:calcinuria | n2=en:decreased serum levels of maoa products | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased tissue total and free carnitine
n1=en:calcinuria | n2=en:decreased tissue total and free carnitine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased triiodothyronine level
n1=en:calcinuria | n2=en:decreased triiodothyronine level | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:decreased whole blood serotonin
n1=en:calcinuria | n2=en:decreased whole blood serotonin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:defect in double-stranded dna repair
n1=en:calcinuria | n2=en:defect in double-stranded dna repair | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:deficiency of creatine phosphate in brain
n1=en:calcinuria | n2=en:deficiency of creatine phosphate in brain | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:deficiency of fat-soluble vitamins
n1=en:calcinuria | n2=en:deficiency of fat-soluble vitamins | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:deficiency of glycoprotein (gp)iib-iiia complex
n1=en:calcinuria | n2=en:deficiency of glycoprotein (gp)iib-iiia complex | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:dehydroepiandrosterone (dhea) at upper level of normal range
n1=en:calcinuria | n2=en:dehydroepiandrosterone (dhea) at upper level of normal range | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:dermatan sulfate excretion in urine
n1=en:calcinuria | n2=en:dermatan sulfate excretion in urine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency
n1=en:calcinuria | n2=en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated 1,25(oh)2 d3
n1=en:calcinuria | n2=en:elevated 1,25(oh)2 d3 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated 7-dehydrocholesterol
n1=en:calcinuria | n2=en:elevated 7-dehydrocholesterol | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated alkaline phosphatase (in one patient)
n1=en:calcinuria | n2=en:elevated alkaline phosphatase (in one patient) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts
n1=en:calcinuria | n2=en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)
n1=en:calcinuria | n2=en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated l-2-hydroxyglutaric acid (urine)
n1=en:calcinuria | n2=en:elevated l-2-hydroxyglutaric acid (urine) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated plasma citrulline (citrullinemia)
n1=en:calcinuria | n2=en:elevated plasma citrulline (citrullinemia) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated plasma propionylcarnitine
n1=en:calcinuria | n2=en:elevated plasma propionylcarnitine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated pregnenolone
n1=en:calcinuria | n2=en:elevated pregnenolone | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated serum bile acids
n1=en:calcinuria | n2=en:elevated serum bile acids | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated serum insulin-to-c-peptide ratio
n1=en:calcinuria | n2=en:elevated serum insulin-to-c-peptide ratio | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated serum protein
n1=en:calcinuria | n2=en:elevated serum protein | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated serum transaminase levels
n1=en:calcinuria | n2=en:elevated serum transaminase levels | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:elevated urinary delta-aminolevulinic acid and porphyrins
n1=en:calcinuria | n2=en:elevated urinary delta-aminolevulinic acid and porphyrins | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:enzyme replacement therapy has not been effective
n1=en:calcinuria | n2=en:enzyme replacement therapy has not been effective | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid
n1=en:calcinuria | n2=en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:female carriers show markedly skewed x inactivation
n1=en:calcinuria | n2=en:female carriers show markedly skewed x inactivation | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fibroblasts attach poorly
n1=en:calcinuria | n2=en:fibroblasts attach poorly | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fibroblasts demonstrate rapid growth with increased dna synthesis
n1=en:calcinuria | n2=en:fibroblasts demonstrate rapid growth with increased dna synthesis | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fibroblasts show increased sensitivity to apoptosis
n1=en:calcinuria | n2=en:fibroblasts show increased sensitivity to apoptosis | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fibronectin decreased
n1=en:calcinuria | n2=en:fibronectin decreased | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fluorescence in situ hybridization specific probe for mds critical region
n1=en:calcinuria | n2=en:fluorescence in situ hybridization specific probe for mds critical region | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:fluorescence of red blood cells by uv microscopy
n1=en:calcinuria | n2=en:fluorescence of red blood cells by uv microscopy | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:folic acid deficiency
n1=en:calcinuria | n2=en:folic acid deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:galactosemia
n1=en:calcinuria | n2=en:galactosemia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:glutaric acidemia type 1
n1=en:calcinuria | n2=en:glutaric acidemia type 1 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally
n1=en:calcinuria | n2=en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase)
n1=en:calcinuria | n2=en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hb h erythrocyte inclusions
n1=en:calcinuria | n2=en:hb h erythrocyte inclusions | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hemophilia b
n1=en:calcinuria | n2=en:hemophilia b | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hepatic glycine cleavage defect
n1=en:calcinuria | n2=en:hepatic glycine cleavage defect | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hereditary fructose intolerance
n1=en:calcinuria | n2=en:hereditary fructose intolerance | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:high deoxypyridinoline/creatinine (in some patients)
n1=en:calcinuria | n2=en:high deoxypyridinoline/creatinine (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:high plasma citrulline (100-300 micromolar)
n1=en:calcinuria | n2=en:high plasma citrulline (100-300 micromolar) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hla-b27 haplotype association (95% patients)
n1=en:calcinuria | n2=en:hla-b27 haplotype association (95% patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hla-dqw6 association (dqb1*0602)
n1=en:calcinuria | n2=en:hla-dqw6 association (dqb1*0602) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hypercholesterolemia (disorder)
n1=en:calcinuria | n2=en:hypercholesterolemia (disorder) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hyperglycinemia (1 patient)
n1=en:calcinuria | n2=en:hyperglycinemia (1 patient) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hyperkalemia (>6.2 mm in both dominant and recessive)
n1=en:calcinuria | n2=en:hyperkalemia (>6.2 mm in both dominant and recessive) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hyperoxaluria
n1=en:calcinuria | n2=en:hyperoxaluria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hypertryptophanemia
n1=en:calcinuria | n2=en:hypertryptophanemia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hyperuricuria
n1=en:calcinuria | n2=en:hyperuricuria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hypoalbuminemia (in 83%)
n1=en:calcinuria | n2=en:hypoalbuminemia (in 83%) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hypocitraturia
n1=en:calcinuria | n2=en:hypocitraturia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:hypoketotic dicarboxylic aciduria (in some patients)
n1=en:calcinuria | n2=en:hypoketotic dicarboxylic aciduria (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:iga antiendomysial antibodies (ema)
n1=en:calcinuria | n2=en:iga antiendomysial antibodies (ema) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:igm deficiency
n1=en:calcinuria | n2=en:igm deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:immotile cilia
n1=en:calcinuria | n2=en:immotile cilia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:impaired n-glycosylation
n1=en:calcinuria | n2=en:impaired n-glycosylation | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:impairment of urinary concentration
n1=en:calcinuria | n2=en:impairment of urinary concentration | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased 11-deoxycorticosterone
n1=en:calcinuria | n2=en:increased 11-deoxycorticosterone | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased activity of the prpp synthetase 1 enzyme
n1=en:calcinuria | n2=en:increased activity of the prpp synthetase 1 enzyme | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased csf and plasma ghb
n1=en:calcinuria | n2=en:increased csf and plasma ghb | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased csf threonine
n1=en:calcinuria | n2=en:increased csf threonine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased csf transferrin despite normal serum transferrin levels
n1=en:calcinuria | n2=en:increased csf transferrin despite normal serum transferrin levels | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd)
n1=en:calcinuria | n2=en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)
n1=en:calcinuria | n2=en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased di- and asialo-transferrin characteristic of type 1 pattern
n1=en:calcinuria | n2=en:increased di- and asialo-transferrin characteristic of type 1 pattern | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased disialo- and asialotransferrin
n1=en:calcinuria | n2=en:increased disialo- and asialotransferrin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased erythrocyte sedimentation rate, episodic
n1=en:calcinuria | n2=en:increased erythrocyte sedimentation rate, episodic | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment
n1=en:calcinuria | n2=en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased phytanic acid in body tissues and fluids
n1=en:calcinuria | n2=en:increased phytanic acid in body tissues and fluids | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased plasma proinsulin
n1=en:calcinuria | n2=en:increased plasma proinsulin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum 18-hydroxycorticosterone (18-ohb)
n1=en:calcinuria | n2=en:increased serum 18-hydroxycorticosterone (18-ohb) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum alanine (1 patient)
n1=en:calcinuria | n2=en:increased serum alanine (1 patient) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum ammonia (group b)
n1=en:calcinuria | n2=en:increased serum ammonia (group b) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum and urinary 2-oxoglutarate
n1=en:calcinuria | n2=en:increased serum and urinary 2-oxoglutarate | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum c26-bile-acid intermediates
n1=en:calcinuria | n2=en:increased serum c26-bile-acid intermediates | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum ferritin (in some patients)
n1=en:calcinuria | n2=en:increased serum ferritin (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum levels of free plasma thyroid hormones
n1=en:calcinuria | n2=en:increased serum levels of free plasma thyroid hormones | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum methionine
n1=en:calcinuria | n2=en:increased serum methionine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum transferrin
n1=en:calcinuria | n2=en:increased serum transferrin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum triiodothyronine (t3)
n1=en:calcinuria | n2=en:increased serum triiodothyronine (t3) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased serum, urinary, and csf saccharopine (in some patients)
n1=en:calcinuria | n2=en:increased serum, urinary, and csf saccharopine (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased succinylaminoimidazole carboxamide ribotide (saicar)
n1=en:calcinuria | n2=en:increased succinylaminoimidazole carboxamide ribotide (saicar) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased tissue levels of free fatty acids
n1=en:calcinuria | n2=en:increased tissue levels of free fatty acids | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased tissue long-chain acylcarnitines
n1=en:calcinuria | n2=en:increased tissue long-chain acylcarnitines | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased triglycerides (less common)
n1=en:calcinuria | n2=en:increased triglycerides (less common) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary 2-methylbutyryl glycine
n1=en:calcinuria | n2=en:increased urinary 2-methylbutyryl glycine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary 3-methylcrotonylglycine
n1=en:calcinuria | n2=en:increased urinary 3-methylcrotonylglycine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary 7-biopterin (primapterin)
n1=en:calcinuria | n2=en:increased urinary 7-biopterin (primapterin) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary alpha-ketoglutaric acid, intermittent
n1=en:calcinuria | n2=en:increased urinary alpha-ketoglutaric acid, intermittent | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary dopamine and dopamine metabolites (paradoxical)
n1=en:calcinuria | n2=en:increased urinary dopamine and dopamine metabolites (paradoxical) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary excretion of coproporphyrin i
n1=en:calcinuria | n2=en:increased urinary excretion of coproporphyrin i | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)
n1=en:calcinuria | n2=en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary fumaric acid
n1=en:calcinuria | n2=en:increased urinary fumaric acid | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary n-acetylated amino acids
n1=en:calcinuria | n2=en:increased urinary n-acetylated amino acids | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary orotic acid (in some patients)
n1=en:calcinuria | n2=en:increased urinary orotic acid (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary oxylate
n1=en:calcinuria | n2=en:increased urinary oxylate | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:increased urinary, plasma, and csf dihydrothymine
n1=en:calcinuria | n2=en:increased urinary, plasma, and csf dihydrothymine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:incresased urinary pyruvate
n1=en:calcinuria | n2=en:incresased urinary pyruvate | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:intermittent ethylmalonic aciduria
n1=en:calcinuria | n2=en:intermittent ethylmalonic aciduria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))
n1=en:calcinuria | n2=en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b)) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:iron deficiency
n1=en:calcinuria | n2=en:iron deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:kypokalemia
n1=en:calcinuria | n2=en:kypokalemia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:lack of ciliary motility
n1=en:calcinuria | n2=en:lack of ciliary motility | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:lactate dehydrogenase increased
n1=en:calcinuria | n2=en:lactate dehydrogenase increased | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:lactic acidemia (2p21del)
n1=en:calcinuria | n2=en:lactic acidemia (2p21del) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:low absolute lymphocyte count
n1=en:calcinuria | n2=en:low absolute lymphocyte count | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:low acth level
n1=en:calcinuria | n2=en:low acth level | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:low plasma methionine
n1=en:calcinuria | n2=en:low plasma methionine | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:low pyruvate carboxylase activity in liver and cultured fibroblasts
n1=en:calcinuria | n2=en:low pyruvate carboxylase activity in liver and cultured fibroblasts | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:low urinary excretion of neutral 17-ketosteroids
n1=en:calcinuria | n2=en:low urinary excretion of neutral 17-ketosteroids | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:methylsuccinic aciduria
n1=en:calcinuria | n2=en:methylsuccinic aciduria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:microdeletion 22q11.2
n1=en:calcinuria | n2=en:microdeletion 22q11.2 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:microduplication of chromosome 5p13
n1=en:calcinuria | n2=en:microduplication of chromosome 5p13 | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:microscopic hematuria
n1=en:calcinuria | n2=en:microscopic hematuria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:microtubule disorganization in some cilia
n1=en:calcinuria | n2=en:microtubule disorganization in some cilia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:mild eosinophilia may occur
n1=en:calcinuria | n2=en:mild eosinophilia may occur | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy
n1=en:calcinuria | n2=en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:multiple autoantibodies
n1=en:calcinuria | n2=en:multiple autoantibodies | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:neonatal hyperbilirubinemia
n1=en:calcinuria | n2=en:neonatal hyperbilirubinemia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:no chromosome breakage
n1=en:calcinuria | n2=en:no chromosome breakage | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal aldosterone
n1=en:calcinuria | n2=en:normal aldosterone | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal blood lactate
n1=en:calcinuria | n2=en:normal blood lactate | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal cd8+/cd4+ ratio
n1=en:calcinuria | n2=en:normal cd8+/cd4+ ratio | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal complex ii activity
n1=en:calcinuria | n2=en:normal complex ii activity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal male karyotype (46,xy)
n1=en:calcinuria | n2=en:normal male karyotype (46,xy) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal plasma phytanic acid
n1=en:calcinuria | n2=en:normal plasma phytanic acid | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin
n1=en:calcinuria | n2=en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal serum erythropoietin (epo, 133170)
n1=en:calcinuria | n2=en:normal serum erythropoietin (epo, 133170) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal serum folate levels
n1=en:calcinuria | n2=en:normal serum folate levels | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal serum parathyroid hormone (pth)
n1=en:calcinuria | n2=en:normal serum parathyroid hormone (pth) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal serum transferrin profiles
n1=en:calcinuria | n2=en:normal serum transferrin profiles | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal to mildly increased serum parathyroid hormone (pth)
n1=en:calcinuria | n2=en:normal to mildly increased serum parathyroid hormone (pth) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:normal to prolonged bleeding time
n1=en:calcinuria | n2=en:normal to prolonged bleeding time | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:pancreatic trypsinogen deficiency
n1=en:calcinuria | n2=en:pancreatic trypsinogen deficiency | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:parathyroid hormone-related peptide (pthrp) absent to low
n1=en:calcinuria | n2=en:parathyroid hormone-related peptide (pthrp) absent to low | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:partial deletion of long arm of chromosome 11 (11q23-qter)
n1=en:calcinuria | n2=en:partial deletion of long arm of chromosome 11 (11q23-qter) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:phosphorylase kinase deficiency in liver and muscle
n1=en:calcinuria | n2=en:phosphorylase kinase deficiency in liver and muscle | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em)
n1=en:calcinuria | n2=en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:positive antinuclear antibody test
n1=en:calcinuria | n2=en:positive antinuclear antibody test | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase
n1=en:calcinuria | n2=en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:prolonged activated partial prothrombin time (appt)
n1=en:calcinuria | n2=en:prolonged activated partial prothrombin time (appt) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:prolonged partial thromboplastin time (ptt)
n1=en:calcinuria | n2=en:prolonged partial thromboplastin time (ptt) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:proper antibody response to protein vaccinations
n1=en:calcinuria | n2=en:proper antibody response to protein vaccinations | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients)
n1=en:calcinuria | n2=en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:raised c-reactive protein
n1=en:calcinuria | n2=en:raised c-reactive protein | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:rapid high rai (radioactive iodine) uptake and turnover
n1=en:calcinuria | n2=en:rapid high rai (radioactive iodine) uptake and turnover | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:reduced bending capacity of cilia
n1=en:calcinuria | n2=en:reduced bending capacity of cilia | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:reduced erythrocyte glucose/hexose transport
n1=en:calcinuria | n2=en:reduced erythrocyte glucose/hexose transport | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase)
n1=en:calcinuria | n2=en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:reduced unsaturated serum cobalamin binding capacity
n1=en:calcinuria | n2=en:reduced unsaturated serum cobalamin binding capacity | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:rheumatoid factor negative
n1=en:calcinuria | n2=en:rheumatoid factor negative | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:saposin a deficiency (finding)
n1=en:calcinuria | n2=en:saposin a deficiency (finding) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:serum aldosterone elevated
n1=en:calcinuria | n2=en:serum aldosterone elevated | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:serum cortisol elevated
n1=en:calcinuria | n2=en:serum cortisol elevated | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:serum homocysteine normal
n1=en:calcinuria | n2=en:serum homocysteine normal | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:serum transaminase increased
n1=en:calcinuria | n2=en:serum transaminase increased | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal)
n1=en:calcinuria | n2=en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:shortened telomeres (in 1 of 2 patients)
n1=en:calcinuria | n2=en:shortened telomeres (in 1 of 2 patients) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:systemic amyloidosis may occur
n1=en:calcinuria | n2=en:systemic amyloidosis may occur | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition
n1=en:calcinuria | n2=en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:triglyceride decreased
n1=en:calcinuria | n2=en:triglyceride decreased | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:tryptophanuria
n1=en:calcinuria | n2=en:tryptophanuria | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form)
n1=en:calcinuria | n2=en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form) | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:uric acid normal
n1=en:calcinuria | n2=en:uric acid normal | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 29 / 0.967 ->
en:urinary excretion of 3-methylcrotonylglycine, chronic
n1=en:calcinuria | n2=en:urinary excretion of 3-methylcrotonylglycine, chronic | rel=r_associated | relid=0 | w=29
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:2-oxoadipic aciduria
n1=en:calcinuria | n2=en:2-oxoadipic aciduria | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:4-hydroxycyclohexylacetic aciduria (adults)
n1=en:calcinuria | n2=en:4-hydroxycyclohexylacetic aciduria (adults) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:abnormal liver enzymes, intermittent
n1=en:calcinuria | n2=en:abnormal liver enzymes, intermittent | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:abnormal liver function tests (less common)
n1=en:calcinuria | n2=en:abnormal liver function tests (less common) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:abnormal liver function tests (sgot, sgpt)
n1=en:calcinuria | n2=en:abnormal liver function tests (sgot, sgpt) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:absence of beta-ureidopropionase activity and protein in liver biopsy
n1=en:calcinuria | n2=en:absence of beta-ureidopropionase activity and protein in liver biopsy | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:absence of cd59 expression on red cells
n1=en:calcinuria | n2=en:absence of cd59 expression on red cells | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency
n1=en:calcinuria | n2=en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:aldosterone level increased above normal
n1=en:calcinuria | n2=en:aldosterone level increased above normal | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:alkaline phosphatase serum increased
n1=en:calcinuria | n2=en:alkaline phosphatase serum increased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma
n1=en:calcinuria | n2=en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:aminoaciduria (1 patient)
n1=en:calcinuria | n2=en:aminoaciduria (1 patient) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:anti-ds dna antibody
n1=en:calcinuria | n2=en:anti-ds dna antibody | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:antithrombin iii decreased
n1=en:calcinuria | n2=en:antithrombin iii decreased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:carnitine deficiency
n1=en:calcinuria | n2=en:carnitine deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:chondroitin 6-sulfate excretion in urine
n1=en:calcinuria | n2=en:chondroitin 6-sulfate excretion in urine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus
n1=en:calcinuria | n2=en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:chronic hypercapnia
n1=en:calcinuria | n2=en:chronic hypercapnia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:cytogenetic breakpoints range from 10q23.3-q26.2
n1=en:calcinuria | n2=en:cytogenetic breakpoints range from 10q23.3-q26.2 | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased acetyl-coa carboxylase activity
n1=en:calcinuria | n2=en:decreased acetyl-coa carboxylase activity | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678)
n1=en:calcinuria | n2=en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased activity of nadph oxidase
n1=en:calcinuria | n2=en:decreased activity of nadph oxidase | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased adenosylcobalamin
n1=en:calcinuria | n2=en:decreased adenosylcobalamin | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased csf glycine
n1=en:calcinuria | n2=en:decreased csf glycine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity
n1=en:calcinuria | n2=en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased dna excision repair
n1=en:calcinuria | n2=en:decreased dna excision repair | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased erythrocyte plasmalogen
n1=en:calcinuria | n2=en:decreased erythrocyte plasmalogen | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased factor xi
n1=en:calcinuria | n2=en:decreased factor xi | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased fibroblast iduronate sulfatase
n1=en:calcinuria | n2=en:decreased fibroblast iduronate sulfatase | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased glycerol kinase activity
n1=en:calcinuria | n2=en:decreased glycerol kinase activity | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased hepatic gaba transaminase activity
n1=en:calcinuria | n2=en:decreased hepatic gaba transaminase activity | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased iga, igg, igm
n1=en:calcinuria | n2=en:decreased iga, igg, igm | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased insulin receptor binding
n1=en:calcinuria | n2=en:decreased insulin receptor binding | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased intracellular fmr protein
n1=en:calcinuria | n2=en:decreased intracellular fmr protein | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased leptin
n1=en:calcinuria | n2=en:decreased leptin | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased levels of plasma factor viii
n1=en:calcinuria | n2=en:decreased levels of plasma factor viii | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient)
n1=en:calcinuria | n2=en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased mitochondrial complex iii activity in liver and fibroblasts
n1=en:calcinuria | n2=en:decreased mitochondrial complex iii activity in liver and fibroblasts | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes
n1=en:calcinuria | n2=en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased nasal nitric oxide (in some patients)
n1=en:calcinuria | n2=en:decreased nasal nitric oxide (in some patients) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased number of igf1 receptors (igf1r, 147370) on cell surface
n1=en:calcinuria | n2=en:decreased number of igf1 receptors (igf1r, 147370) on cell surface | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased plasma zinc levels
n1=en:calcinuria | n2=en:decreased plasma zinc levels | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased respiratory chain complex iii activity in multiple tissues
n1=en:calcinuria | n2=en:decreased respiratory chain complex iii activity in multiple tissues | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased serum ferritin
n1=en:calcinuria | n2=en:decreased serum ferritin | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased serum insulin-like growth factor-1 (igf1, 147440)
n1=en:calcinuria | n2=en:decreased serum insulin-like growth factor-1 (igf1, 147440) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased serum luteinizing hormone (lh)
n1=en:calcinuria | n2=en:decreased serum luteinizing hormone (lh) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased switched memory b cells
n1=en:calcinuria | n2=en:decreased switched memory b cells | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased tetrasialo-transferrin
n1=en:calcinuria | n2=en:decreased tetrasialo-transferrin | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid
n1=en:calcinuria | n2=en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:decreased very long-chain acyl-coa dehydrogenase protein and activity
n1=en:calcinuria | n2=en:decreased very long-chain acyl-coa dehydrogenase protein and activity | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:defect in dna repair
n1=en:calcinuria | n2=en:defect in dna repair | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:deficiency of fructokinase
n1=en:calcinuria | n2=en:deficiency of fructokinase | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts
n1=en:calcinuria | n2=en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:deficiency or absence of p47-phox protein (type i)
n1=en:calcinuria | n2=en:deficiency or absence of p47-phox protein (type i) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes
n1=en:calcinuria | n2=en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:dilated rough endoplasmic reticulum (rer)
n1=en:calcinuria | n2=en:dilated rough endoplasmic reticulum (rer) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:echocardiogram abnormal
n1=en:calcinuria | n2=en:echocardiogram abnormal | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:electrolyte disturbances from intractable diarrhea
n1=en:calcinuria | n2=en:electrolyte disturbances from intractable diarrhea | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:electrolyturia (1 patient)
n1=en:calcinuria | n2=en:electrolyturia (1 patient) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:electron microscopy of patient respiratory cells shows defects of outer dynein arms
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows defects of outer dynein arms | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated alkaline phosphatase (if more than one affected site)
n1=en:calcinuria | n2=en:elevated alkaline phosphatase (if more than one affected site) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated bilirubin (bilirubinemia)
n1=en:calcinuria | n2=en:elevated bilirubin (bilirubinemia) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated crp
n1=en:calcinuria | n2=en:elevated crp | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated erythrocyte adenosine deaminase activity
n1=en:calcinuria | n2=en:elevated erythrocyte adenosine deaminase activity | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated fasting triglycerides
n1=en:calcinuria | n2=en:elevated fasting triglycerides | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated lathosterol
n1=en:calcinuria | n2=en:elevated lathosterol | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated liver function tests
n1=en:calcinuria | n2=en:elevated liver function tests | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma and urine inorganic pyrophosphate (ppi)
n1=en:calcinuria | n2=en:elevated plasma and urine inorganic pyrophosphate (ppi) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)
n1=en:calcinuria | n2=en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma cholestanol
n1=en:calcinuria | n2=en:elevated plasma cholestanol | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma follicle stimulating hormone (fsh)
n1=en:calcinuria | n2=en:elevated plasma follicle stimulating hormone (fsh) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma methionine (methioninemia)
n1=en:calcinuria | n2=en:elevated plasma methionine (methioninemia) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma ornithine (~10-fold)
n1=en:calcinuria | n2=en:elevated plasma ornithine (~10-fold) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated plasma phytanic acid
n1=en:calcinuria | n2=en:elevated plasma phytanic acid | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated prothrombin time
n1=en:calcinuria | n2=en:elevated prothrombin time | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated serum acid phosphatase
n1=en:calcinuria | n2=en:elevated serum acid phosphatase | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated serum parathyroid hormone (pth) level
n1=en:calcinuria | n2=en:elevated serum parathyroid hormone (pth) level | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated serum phosphate in heterozygotes
n1=en:calcinuria | n2=en:elevated serum phosphate in heterozygotes | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated urinary pge(2) levels
n1=en:calcinuria | n2=en:elevated urinary pge(2) levels | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:elevated urinary phosphoethanolamine
n1=en:calcinuria | n2=en:elevated urinary phosphoethanolamine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:fasting chylomicronemia
n1=en:calcinuria | n2=en:fasting chylomicronemia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside
n1=en:calcinuria | n2=en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:fibroblasts show decreased peroxisomes arranged in rows
n1=en:calcinuria | n2=en:fibroblasts show decreased peroxisomes arranged in rows | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy
n1=en:calcinuria | n2=en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:foam cells in visceral organs and cns
n1=en:calcinuria | n2=en:foam cells in visceral organs and cns | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:fumarylacetoacetate hydrolase (fah) deficiency
n1=en:calcinuria | n2=en:fumarylacetoacetate hydrolase (fah) deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:generalized amyloid deposition
n1=en:calcinuria | n2=en:generalized amyloid deposition | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:glycoamino aciduria
n1=en:calcinuria | n2=en:glycoamino aciduria | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:glycogen storage disease type v
n1=en:calcinuria | n2=en:glycogen storage disease type v | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally
n1=en:calcinuria | n2=en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hemoglobin decreased
n1=en:calcinuria | n2=en:hemoglobin decreased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:heparin cofactor ii deficiency (disorder)
n1=en:calcinuria | n2=en:heparin cofactor ii deficiency (disorder) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:high newborn serum levels of immunoreactive trypsinogen
n1=en:calcinuria | n2=en:high newborn serum levels of immunoreactive trypsinogen | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q
n1=en:calcinuria | n2=en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hyperarginemia
n1=en:calcinuria | n2=en:hyperarginemia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypercalciuria
n1=en:calcinuria | n2=en:hypercalciuria | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hyperglycinuria (disorder)
n1=en:calcinuria | n2=en:hyperglycinuria (disorder) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hyperinsulinemic hypoglycemia, familial, 7
n1=en:calcinuria | n2=en:hyperinsulinemic hypoglycemia, familial, 7 | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hyperkalemia (5.8 +/- 0.8 mm)
n1=en:calcinuria | n2=en:hyperkalemia (5.8 +/- 0.8 mm) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hyperlactemia
n1=en:calcinuria | n2=en:hyperlactemia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypertriglyceridemia (rare)
n1=en:calcinuria | n2=en:hypertriglyceridemia (rare) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypertriglyceridemia, transient
n1=en:calcinuria | n2=en:hypertriglyceridemia, transient | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypocalcemia (male)
n1=en:calcinuria | n2=en:hypocalcemia (male) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypoglycosylation of plasma glycoproteins
n1=en:calcinuria | n2=en:hypoglycosylation of plasma glycoproteins | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypokalemia occurs during paralytic attacks
n1=en:calcinuria | n2=en:hypokalemia occurs during paralytic attacks | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypophosphatemia (less common)
n1=en:calcinuria | n2=en:hypophosphatemia (less common) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:hypoproteinemia (in 1 patient)
n1=en:calcinuria | n2=en:hypoproteinemia (in 1 patient) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells
n1=en:calcinuria | n2=en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:igg deficiency
n1=en:calcinuria | n2=en:igg deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:igg, decreased
n1=en:calcinuria | n2=en:igg, decreased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation
n1=en:calcinuria | n2=en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased creatine kinase, mild to moderate
n1=en:calcinuria | n2=en:increased creatine kinase, mild to moderate | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased cross-linked c-terminal telopeptide of type i collagen
n1=en:calcinuria | n2=en:increased cross-linked c-terminal telopeptide of type i collagen | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased csf 3-methoxytyrosine (3-mt)
n1=en:calcinuria | n2=en:increased csf 3-methoxytyrosine (3-mt) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased gamma-interferon
n1=en:calcinuria | n2=en:increased gamma-interferon | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased il18
n1=en:calcinuria | n2=en:increased il18 | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased il6, episodic
n1=en:calcinuria | n2=en:increased il6, episodic | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased interleukin 10
n1=en:calcinuria | n2=en:increased interleukin 10 | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased intracellular fmrp mrna
n1=en:calcinuria | n2=en:increased intracellular fmrp mrna | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum
n1=en:calcinuria | n2=en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells
n1=en:calcinuria | n2=en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased plasma 2-methylbutyrylcarnitine
n1=en:calcinuria | n2=en:increased plasma 2-methylbutyrylcarnitine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased plasma long-chain acylcarnitines
n1=en:calcinuria | n2=en:increased plasma long-chain acylcarnitines | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased plasma progastrin
n1=en:calcinuria | n2=en:increased plasma progastrin | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased plasma proglucagon
n1=en:calcinuria | n2=en:increased plasma proglucagon | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum arylsulfatase a.
n1=en:calcinuria | n2=en:increased serum arylsulfatase a. | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum beta-carotene
n1=en:calcinuria | n2=en:increased serum beta-carotene | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum c4 and c5 acylcarnitine esters
n1=en:calcinuria | n2=en:increased serum c4 and c5 acylcarnitine esters | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum creatine kinase (less common)
n1=en:calcinuria | n2=en:increased serum creatine kinase (less common) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum glycine, leucine, isoleucine, valine
n1=en:calcinuria | n2=en:increased serum glycine, leucine, isoleucine, valine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum iduronate sulfatase
n1=en:calcinuria | n2=en:increased serum iduronate sulfatase | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum lactate (mild)
n1=en:calcinuria | n2=en:increased serum lactate (mild) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum lactate during metabolic crisis
n1=en:calcinuria | n2=en:increased serum lactate during metabolic crisis | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum lipoproteins
n1=en:calcinuria | n2=en:increased serum lipoproteins | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum s-adenosylmethionine
n1=en:calcinuria | n2=en:increased serum s-adenosylmethionine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased serum total cholesterol
n1=en:calcinuria | n2=en:increased serum total cholesterol | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased soluble il2 receptor
n1=en:calcinuria | n2=en:increased soluble il2 receptor | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased succinyladenosine (s-ado) in serum, urine, and csf
n1=en:calcinuria | n2=en:increased succinyladenosine (s-ado) in serum, urine, and csf | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased tissue levels of triglycerides
n1=en:calcinuria | n2=en:increased tissue levels of triglycerides | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary 2-methylacetoacetic acid
n1=en:calcinuria | n2=en:increased urinary 2-methylacetoacetic acid | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary disaccharides (mannosyl-n-acetylglucosamine)
n1=en:calcinuria | n2=en:increased urinary disaccharides (mannosyl-n-acetylglucosamine) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary excretion of gamma-aminobutyric acid (gaba)
n1=en:calcinuria | n2=en:increased urinary excretion of gamma-aminobutyric acid (gaba) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary excretion of l-xylulose
n1=en:calcinuria | n2=en:increased urinary excretion of l-xylulose | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary lactate
n1=en:calcinuria | n2=en:increased urinary lactate | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary levels of maoa substrates (endogenous bioamines)
n1=en:calcinuria | n2=en:increased urinary levels of maoa substrates (endogenous bioamines) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary mannose-containing oligosaccharides
n1=en:calcinuria | n2=en:increased urinary mannose-containing oligosaccharides | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary phospholipids
n1=en:calcinuria | n2=en:increased urinary phospholipids | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:increased urinary taurine
n1=en:calcinuria | n2=en:increased urinary taurine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:inner and outer dynein arm defects, variable
n1=en:calcinuria | n2=en:inner and outer dynein arm defects, variable | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:intermittent severe hypoglycemia (in some patients)
n1=en:calcinuria | n2=en:intermittent severe hypoglycemia (in some patients) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:iron binding capacity total increased
n1=en:calcinuria | n2=en:iron binding capacity total increased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation
n1=en:calcinuria | n2=en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:ketoacidosis
n1=en:calcinuria | n2=en:ketoacidosis | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:ketonuria (1 patient)
n1=en:calcinuria | n2=en:ketonuria (1 patient) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:long-chain dicarboxylic aciduria
n1=en:calcinuria | n2=en:long-chain dicarboxylic aciduria | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low csf creatinine
n1=en:calcinuria | n2=en:low csf creatinine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low or absent prolactin (pl)
n1=en:calcinuria | n2=en:low or absent prolactin (pl) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low or normal serum calcium
n1=en:calcinuria | n2=en:low or normal serum calcium | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low or undetectable c-peptide
n1=en:calcinuria | n2=en:low or undetectable c-peptide | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low plasma citrulline
n1=en:calcinuria | n2=en:low plasma citrulline | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low plasma triglyceride level
n1=en:calcinuria | n2=en:low plasma triglyceride level | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low plasma tryptophan (inflammatory type b)
n1=en:calcinuria | n2=en:low plasma tryptophan (inflammatory type b) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low serum levels of ketone bodies
n1=en:calcinuria | n2=en:low serum levels of ketone bodies | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:low to normal plasma methionine
n1=en:calcinuria | n2=en:low to normal plasma methionine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:lysyl hydroxylase deficiency
n1=en:calcinuria | n2=en:lysyl hydroxylase deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:marked elevation of serum c-reactive protein level (crp 123260)
n1=en:calcinuria | n2=en:marked elevation of serum c-reactive protein level (crp 123260) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:median mean platelet volume (mpv) 12.5fl
n1=en:calcinuria | n2=en:median mean platelet volume (mpv) 12.5fl | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:median mean platelet volume (mpv) 18fl
n1=en:calcinuria | n2=en:median mean platelet volume (mpv) 18fl | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:methylenetetrahydrofolate reductase deficiency
n1=en:calcinuria | n2=en:methylenetetrahydrofolate reductase deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:methylmalonic aciduria
n1=en:calcinuria | n2=en:methylmalonic aciduria | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:mildly elevated transaminases
n1=en:calcinuria | n2=en:mildly elevated transaminases | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)
n1=en:calcinuria | n2=en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:myoglobinuria (reported in 1 patient)
n1=en:calcinuria | n2=en:myoglobinuria (reported in 1 patient) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:no elevation of free fatty acids
n1=en:calcinuria | n2=en:no elevation of free fatty acids | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:no ketonuria
n1=en:calcinuria | n2=en:no ketonuria | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal calcium (female)
n1=en:calcinuria | n2=en:normal calcium (female) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal cerebrospinal fluid
n1=en:calcinuria | n2=en:normal cerebrospinal fluid | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal igg levels
n1=en:calcinuria | n2=en:normal igg levels | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal or increased serum phytanic acid
n1=en:calcinuria | n2=en:normal or increased serum phytanic acid | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal or increased urinary cyclic amp response to pth administration
n1=en:calcinuria | n2=en:normal or increased urinary cyclic amp response to pth administration | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal or mildly increased serum gamma-glutamyltransferase (ggt)
n1=en:calcinuria | n2=en:normal or mildly increased serum gamma-glutamyltransferase (ggt) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal plasma and tissue carnitine
n1=en:calcinuria | n2=en:normal plasma and tissue carnitine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal to increased plasma glycine
n1=en:calcinuria | n2=en:normal to increased plasma glycine | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal urinary orotic acid
n1=en:calcinuria | n2=en:normal urinary orotic acid | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:normal urinary pterins
n1=en:calcinuria | n2=en:normal urinary pterins | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration
n1=en:calcinuria | n2=en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:paraproteinemia
n1=en:calcinuria | n2=en:paraproteinemia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair
n1=en:calcinuria | n2=en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11)
n1=en:calcinuria | n2=en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit
n1=en:calcinuria | n2=en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects
n1=en:calcinuria | n2=en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:phosphate normal
n1=en:calcinuria | n2=en:phosphate normal | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:phosphaturia
n1=en:calcinuria | n2=en:phosphaturia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:pipecolic acidemia
n1=en:calcinuria | n2=en:pipecolic acidemia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:pregnant mothers of affected children have decreased plasma and urinary estrogen
n1=en:calcinuria | n2=en:pregnant mothers of affected children have decreased plasma and urinary estrogen | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:premature chromosome condensation
n1=en:calcinuria | n2=en:premature chromosome condensation | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:presence of glial fibrillary acidic proteins (gfap) in astrocytes
n1=en:calcinuria | n2=en:presence of glial fibrillary acidic proteins (gfap) in astrocytes | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:prolonged partial thromboplastin time
n1=en:calcinuria | n2=en:prolonged partial thromboplastin time | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:prominent leukocytosis (30,000/ml)
n1=en:calcinuria | n2=en:prominent leukocytosis (30,000/ml) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:proteinuria (type ii, congenital)
n1=en:calcinuria | n2=en:proteinuria (type ii, congenital) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:raised tsh level
n1=en:calcinuria | n2=en:raised tsh level | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:reduced cd4+ count and proportionally increased cd8+ count
n1=en:calcinuria | n2=en:reduced cd4+ count and proportionally increased cd8+ count | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:reduced platelet glycoprotein ib complex
n1=en:calcinuria | n2=en:reduced platelet glycoprotein ib complex | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:saccharopine dehydrogenase deficiency
n1=en:calcinuria | n2=en:saccharopine dehydrogenase deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:schirmer test shows alacrima
n1=en:calcinuria | n2=en:schirmer test shows alacrima | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:serum bilirubin increased
n1=en:calcinuria | n2=en:serum bilirubin increased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:serum calcitonin, increased
n1=en:calcinuria | n2=en:serum calcitonin, increased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:serum cholesterol raised
n1=en:calcinuria | n2=en:serum cholesterol raised | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:serum creatine kinase may be increased
n1=en:calcinuria | n2=en:serum creatine kinase may be increased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:serum iron normal
n1=en:calcinuria | n2=en:serum iron normal | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:serum thyroxine may be decreased or normal
n1=en:calcinuria | n2=en:serum thyroxine may be decreased or normal | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:some cilia show abnormal beating patterns or immotility
n1=en:calcinuria | n2=en:some cilia show abnormal beating patterns or immotility | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern)
n1=en:calcinuria | n2=en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33
n1=en:calcinuria | n2=en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33 | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:spongy degeneration of brain on histology
n1=en:calcinuria | n2=en:spongy degeneration of brain on histology | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:sterol 27-hydroxylase deficiency
n1=en:calcinuria | n2=en:sterol 27-hydroxylase deficiency | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues
n1=en:calcinuria | n2=en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:t cells may be increased or decreased
n1=en:calcinuria | n2=en:t cells may be increased or decreased | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:telomere shortening
n1=en:calcinuria | n2=en:telomere shortening | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:transferase deficiency galactosemia
n1=en:calcinuria | n2=en:transferase deficiency galactosemia | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:tyrosinemia (transient, resolves in infancy)
n1=en:calcinuria | n2=en:tyrosinemia (transient, resolves in infancy) | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:variegated translocation mosaicism in cultured fibroblasts
n1=en:calcinuria | n2=en:variegated translocation mosaicism in cultured fibroblasts | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:very low igg
n1=en:calcinuria | n2=en:very low igg | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 28 / 0.933 ->
en:very low igm
n1=en:calcinuria | n2=en:very low igm | rel=r_associated | relid=0 | w=28
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood
n1=en:calcinuria | n2=en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:3-methylglutaconic aciduria (3-mgc)
n1=en:calcinuria | n2=en:3-methylglutaconic aciduria (3-mgc) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:5-alpha-reductase-2 enzyme deficiency
n1=en:calcinuria | n2=en:5-alpha-reductase-2 enzyme deficiency | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:abnormal columnization of chondrocytes
n1=en:calcinuria | n2=en:abnormal columnization of chondrocytes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:abnormal dystrophin on muscle biopsy
n1=en:calcinuria | n2=en:abnormal dystrophin on muscle biopsy | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:abnormal glycosylation of serum transferrin, type 1 pattern
n1=en:calcinuria | n2=en:abnormal glycosylation of serum transferrin, type 1 pattern | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:abnormal liver enzymes during illness
n1=en:calcinuria | n2=en:abnormal liver enzymes during illness | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:abnormal serum glycoproteins
n1=en:calcinuria | n2=en:abnormal serum glycoproteins | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:abnormal urinary organic acids
n1=en:calcinuria | n2=en:abnormal urinary organic acids | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:absence of peroxidase staining in neutrophils and monocytes
n1=en:calcinuria | n2=en:absence of peroxidase staining in neutrophils and monocytes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:absent 7-dehydrocholesterol
n1=en:calcinuria | n2=en:absent 7-dehydrocholesterol | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:absent ch50 activity in complete c4 deficiency
n1=en:calcinuria | n2=en:absent ch50 activity in complete c4 deficiency | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts
n1=en:calcinuria | n2=en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:agammaglobulinemia
n1=en:calcinuria | n2=en:agammaglobulinemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:aminoaciduria (less common)
n1=en:calcinuria | n2=en:aminoaciduria (less common) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)
n1=en:calcinuria | n2=en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:antithrombin iii deficiency
n1=en:calcinuria | n2=en:antithrombin iii deficiency | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:argininosuccinic aciduria
n1=en:calcinuria | n2=en:argininosuccinic aciduria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:associated with serum anti-phospholipid antibodies in about 50% of patients
n1=en:calcinuria | n2=en:associated with serum anti-phospholipid antibodies in about 50% of patients | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:bilirubin conjugated increased
n1=en:calcinuria | n2=en:bilirubin conjugated increased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)
n1=en:calcinuria | n2=en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:cd4+/cd8+ ratio often reversed
n1=en:calcinuria | n2=en:cd4+/cd8+ ratio often reversed | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:cell studies show increased dna breakage
n1=en:calcinuria | n2=en:cell studies show increased dna breakage | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:chromosomal instability
n1=en:calcinuria | n2=en:chromosomal instability | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus
n1=en:calcinuria | n2=en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:coagulopathy (inr = 2.2 - 3.5)
n1=en:calcinuria | n2=en:coagulopathy (inr = 2.2 - 3.5) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:creatine phosphokinase serum increased
n1=en:calcinuria | n2=en:creatine phosphokinase serum increased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:cytogenetic deletion of chromosome 17p13.3
n1=en:calcinuria | n2=en:cytogenetic deletion of chromosome 17p13.3 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1
n1=en:calcinuria | n2=en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decrease or absence of cathepsin d (ctsd) protein immunostaining
n1=en:calcinuria | n2=en:decrease or absence of cathepsin d (ctsd) protein immunostaining | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase
n1=en:calcinuria | n2=en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased activity of dihydrofolate reductase
n1=en:calcinuria | n2=en:decreased activity of dihydrofolate reductase | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased activity of mitochondrial respiratory chain complex i
n1=en:calcinuria | n2=en:decreased activity of mitochondrial respiratory chain complex i | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased activity of thymidine phosphorylase
n1=en:calcinuria | n2=en:decreased activity of thymidine phosphorylase | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased cobalamin in liver, kidney, and cultured fibroblasts
n1=en:calcinuria | n2=en:decreased cobalamin in liver, kidney, and cultured fibroblasts | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased cpt1 activity
n1=en:calcinuria | n2=en:decreased cpt1 activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased csf serine
n1=en:calcinuria | n2=en:decreased csf serine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate
n1=en:calcinuria | n2=en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased decr enzyme activity
n1=en:calcinuria | n2=en:decreased decr enzyme activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased dermal hydroxylysine content
n1=en:calcinuria | n2=en:decreased dermal hydroxylysine content | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity
n1=en:calcinuria | n2=en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased formation of complex (tri-, tetra-antennary) n-glycans
n1=en:calcinuria | n2=en:decreased formation of complex (tri-, tetra-antennary) n-glycans | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased methionine synthase activity
n1=en:calcinuria | n2=en:decreased methionine synthase activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid
n1=en:calcinuria | n2=en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased or normal serum factor b
n1=en:calcinuria | n2=en:decreased or normal serum factor b | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased phytanic acid oxidase activity
n1=en:calcinuria | n2=en:decreased phytanic acid oxidase activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased plasma esterified cholesterol
n1=en:calcinuria | n2=en:decreased plasma esterified cholesterol | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased plasma total and free carnitine
n1=en:calcinuria | n2=en:decreased plasma total and free carnitine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased pyruvate carboxylase (pc) activity (less than 5%)
n1=en:calcinuria | n2=en:decreased pyruvate carboxylase (pc) activity (less than 5%) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased s-ado:saicar ratio
n1=en:calcinuria | n2=en:decreased s-ado:saicar ratio | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased scad activity
n1=en:calcinuria | n2=en:decreased scad activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased serum acth
n1=en:calcinuria | n2=en:decreased serum acth | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased serum carnitine in acute stage
n1=en:calcinuria | n2=en:decreased serum carnitine in acute stage | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased serum factor h (atypical hus)
n1=en:calcinuria | n2=en:decreased serum factor h (atypical hus) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased serum leptin
n1=en:calcinuria | n2=en:decreased serum leptin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased serum thyroid-stimulating hormone (tsh)
n1=en:calcinuria | n2=en:decreased serum thyroid-stimulating hormone (tsh) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased sulfite oxidase activity
n1=en:calcinuria | n2=en:decreased sulfite oxidase activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased thrombospondin
n1=en:calcinuria | n2=en:decreased thrombospondin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased urinary excretion of uromodulin
n1=en:calcinuria | n2=en:decreased urinary excretion of uromodulin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)
n1=en:calcinuria | n2=en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased uros activity (1 patient)
n1=en:calcinuria | n2=en:decreased uros activity (1 patient) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:decreased xanthine dehydrogenase activity
n1=en:calcinuria | n2=en:decreased xanthine dehydrogenase activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:defect in chylomicron secretion
n1=en:calcinuria | n2=en:defect in chylomicron secretion | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:defective bile acid metabolism
n1=en:calcinuria | n2=en:defective bile acid metabolism | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:deficiency or absence of p22-phox (608508) protein
n1=en:calcinuria | n2=en:deficiency or absence of p22-phox (608508) protein | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:deficiency or absence of p91-phox protein
n1=en:calcinuria | n2=en:deficiency or absence of p91-phox protein | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase
n1=en:calcinuria | n2=en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:detection by rt-pcr and southern blot analysis for primary diagnosis and follow up for residual disease
n1=en:calcinuria | n2=en:detection by rt-pcr and southern blot analysis for primary diagnosis and follow up for residual disease | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)
n1=en:calcinuria | n2=en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:diminished lymphocyte response to phytohemaglutinin
n1=en:calcinuria | n2=en:diminished lymphocyte response to phytohemaglutinin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated alpha-ketoglutarate (in most patients)
n1=en:calcinuria | n2=en:elevated alpha-ketoglutarate (in most patients) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated csf/plasma glycine ratio
n1=en:calcinuria | n2=en:elevated csf/plasma glycine ratio | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated hdl (2-6x normal) in homozygotes
n1=en:calcinuria | n2=en:elevated hdl (2-6x normal) in homozygotes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated hepatic transaminases
n1=en:calcinuria | n2=en:elevated hepatic transaminases | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)
n1=en:calcinuria | n2=en:elevated plasma branched chain amino acids (leucine, isoleucine, valine) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated plasma insulin
n1=en:calcinuria | n2=en:elevated plasma insulin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated plasma luteinizing hormone (lh)
n1=en:calcinuria | n2=en:elevated plasma luteinizing hormone (lh) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated resting serum lactate, increased with exercise
n1=en:calcinuria | n2=en:elevated resting serum lactate, increased with exercise | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated sed rate
n1=en:calcinuria | n2=en:elevated sed rate | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated serum glutamic oxaloacetic transaminase (sgot)
n1=en:calcinuria | n2=en:elevated serum glutamic oxaloacetic transaminase (sgot) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated serum levels of 2-prime deoxyadenosine
n1=en:calcinuria | n2=en:elevated serum levels of 2-prime deoxyadenosine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated serum transaminases during infections
n1=en:calcinuria | n2=en:elevated serum transaminases during infections | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated serum transferrin saturation
n1=en:calcinuria | n2=en:elevated serum transferrin saturation | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated total bilirubin
n1=en:calcinuria | n2=en:elevated total bilirubin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated urinary 7 alpha-hydroxylated bile alcohols
n1=en:calcinuria | n2=en:elevated urinary 7 alpha-hydroxylated bile alcohols | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:elevated white blood cell cystine
n1=en:calcinuria | n2=en:elevated white blood cell cystine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:eosinophilia, mild
n1=en:calcinuria | n2=en:eosinophilia, mild | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:erythroid colony-forming units show spontaneous growth in the absence of epo
n1=en:calcinuria | n2=en:erythroid colony-forming units show spontaneous growth in the absence of epo | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:farber lipogranulomatosis
n1=en:calcinuria | n2=en:farber lipogranulomatosis | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:ferritin decreased
n1=en:calcinuria | n2=en:ferritin decreased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:fibroblasts accumulate dol-pp-glcnac2man5
n1=en:calcinuria | n2=en:fibroblasts accumulate dol-pp-glcnac2man5 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)
n1=en:calcinuria | n2=en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:glycinuria
n1=en:calcinuria | n2=en:glycinuria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:glycogen accumulation in both liver and muscle
n1=en:calcinuria | n2=en:glycogen accumulation in both liver and muscle | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:green serum
n1=en:calcinuria | n2=en:green serum | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:heteroplasmic partial duplication of mtdna
n1=en:calcinuria | n2=en:heteroplasmic partial duplication of mtdna | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:high m-component
n1=en:calcinuria | n2=en:high m-component | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine
n1=en:calcinuria | n2=en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:high-normal plasma triglyceride concentration (in heterozygotes)
n1=en:calcinuria | n2=en:high-normal plasma triglyceride concentration (in heterozygotes) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyperbilirubinemia in those with liver failure
n1=en:calcinuria | n2=en:hyperbilirubinemia in those with liver failure | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)
n1=en:calcinuria | n2=en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hypercholesterolemia
n1=en:calcinuria | n2=en:hypercholesterolemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hypercholesterolemia (reported in 2 patients)
n1=en:calcinuria | n2=en:hypercholesterolemia (reported in 2 patients) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyperhomocystinemia
n1=en:calcinuria | n2=en:hyperhomocystinemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyperinsulinemia
n1=en:calcinuria | n2=en:hyperinsulinemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyperprolinemia (10-15 times normal)
n1=en:calcinuria | n2=en:hyperprolinemia (10-15 times normal) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyperprolinemia type 1
n1=en:calcinuria | n2=en:hyperprolinemia type 1 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hypoglycemia
n1=en:calcinuria | n2=en:hypoglycemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hypoketotic hypoglycemia
n1=en:calcinuria | n2=en:hypoketotic hypoglycemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hypomagnesemia
n1=en:calcinuria | n2=en:hypomagnesemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hypomethylation of satellite repeats on chromosome 1, 9, and 16
n1=en:calcinuria | n2=en:hypomethylation of satellite repeats on chromosome 1, 9, and 16 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:hyponatremic dehydration, rarely
n1=en:calcinuria | n2=en:hyponatremic dehydration, rarely | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:i-cell disease
n1=en:calcinuria | n2=en:i-cell disease | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:impaired creatine uptake in fibroblasts
n1=en:calcinuria | n2=en:impaired creatine uptake in fibroblasts | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:impaired response to gm-csf
n1=en:calcinuria | n2=en:impaired response to gm-csf | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:inappropriately normal serum 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:inappropriately normal serum 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increase urinary excretion of lysine, arginine, and ornithine
n1=en:calcinuria | n2=en:increase urinary excretion of lysine, arginine, and ornithine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased 18-oxocortisol
n1=en:calcinuria | n2=en:increased 18-oxocortisol | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased bile acid intermediates (dhca and thca)
n1=en:calcinuria | n2=en:increased bile acid intermediates (dhca and thca) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased blood alanine
n1=en:calcinuria | n2=en:increased blood alanine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased circulating renin level
n1=en:calcinuria | n2=en:increased circulating renin level | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased ferritin
n1=en:calcinuria | n2=en:increased ferritin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased free erythrocyte protoporphyrin
n1=en:calcinuria | n2=en:increased free erythrocyte protoporphyrin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased growth hormone (in 1 of 2 patients)
n1=en:calcinuria | n2=en:increased growth hormone (in 1 of 2 patients) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased histidine in blood, urine, and csf
n1=en:calcinuria | n2=en:increased histidine in blood, urine, and csf | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased plasma free cholesterol
n1=en:calcinuria | n2=en:increased plasma free cholesterol | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased plasma homogentisic acid (hga)
n1=en:calcinuria | n2=en:increased plasma homogentisic acid (hga) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased sensitivity to adrenergic and cholinergic agents
n1=en:calcinuria | n2=en:increased sensitivity to adrenergic and cholinergic agents | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum alkaline phosphatase (in some patients)
n1=en:calcinuria | n2=en:increased serum alkaline phosphatase (in some patients) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum and cerebrospinal fluid levels of pipecolic acid
n1=en:calcinuria | n2=en:increased serum and cerebrospinal fluid levels of pipecolic acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum cholesterol (in 3 of 10 patients)
n1=en:calcinuria | n2=en:increased serum cholesterol (in 3 of 10 patients) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum creatine kinase (1 family)
n1=en:calcinuria | n2=en:increased serum creatine kinase (1 family) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum deoxyuridine
n1=en:calcinuria | n2=en:increased serum deoxyuridine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum fgf23
n1=en:calcinuria | n2=en:increased serum fgf23 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum gm-csf
n1=en:calcinuria | n2=en:increased serum gm-csf | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum lactate (in some patients)
n1=en:calcinuria | n2=en:increased serum lactate (in some patients) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum lactate, particularly after exercise
n1=en:calcinuria | n2=en:increased serum lactate, particularly after exercise | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased serum vascular endothelial growth factor (vegf, 192240)
n1=en:calcinuria | n2=en:increased serum vascular endothelial growth factor (vegf, 192240) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary 2-hydroxybutyrate
n1=en:calcinuria | n2=en:increased urinary 2-hydroxybutyrate | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary 3-oh-butyric acid
n1=en:calcinuria | n2=en:increased urinary 3-oh-butyric acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary citric acid cycle intermediates
n1=en:calcinuria | n2=en:increased urinary citric acid cycle intermediates | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary creatine
n1=en:calcinuria | n2=en:increased urinary creatine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary formiminoglutamic acid (figlu)
n1=en:calcinuria | n2=en:increased urinary formiminoglutamic acid (figlu) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary hga
n1=en:calcinuria | n2=en:increased urinary hga | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary isobutyryl glycine
n1=en:calcinuria | n2=en:increased urinary isobutyryl glycine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary o-linked sialopeptides
n1=en:calcinuria | n2=en:increased urinary o-linked sialopeptides | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary s-sulfocysteine
n1=en:calcinuria | n2=en:increased urinary s-sulfocysteine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary thiosulfate
n1=en:calcinuria | n2=en:increased urinary thiosulfate | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid
n1=en:calcinuria | n2=en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:increased very-long chain fatty acids
n1=en:calcinuria | n2=en:increased very-long chain fatty acids | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:intermittent 3-methylglutaconic aciduria
n1=en:calcinuria | n2=en:intermittent 3-methylglutaconic aciduria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:intermittent dicarbonic aciduria
n1=en:calcinuria | n2=en:intermittent dicarbonic aciduria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:intermittent increase of urinary ethylmalonic acid
n1=en:calcinuria | n2=en:intermittent increase of urinary ethylmalonic acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:irregularly shaped sperm heads
n1=en:calcinuria | n2=en:irregularly shaped sperm heads | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:isochromosome 12p (i(12p))
n1=en:calcinuria | n2=en:isochromosome 12p (i(12p)) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:isovalerylglycinuria
n1=en:calcinuria | n2=en:isovalerylglycinuria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:lack of lysosomal inclusions in visceral organs
n1=en:calcinuria | n2=en:lack of lysosomal inclusions in visceral organs | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:lipopigment in extraneuronal cells
n1=en:calcinuria | n2=en:lipopigment in extraneuronal cells | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:little to absent aspartylglucosaminuria activity
n1=en:calcinuria | n2=en:little to absent aspartylglucosaminuria activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low 25-oh-vitamin d level
n1=en:calcinuria | n2=en:low 25-oh-vitamin d level | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low or absent follicle stimulating hormone (fsh)
n1=en:calcinuria | n2=en:low or absent follicle stimulating hormone (fsh) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low or absent igm levels
n1=en:calcinuria | n2=en:low or absent igm levels | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low serum alpha-fetoprotein (recessive)
n1=en:calcinuria | n2=en:low serum alpha-fetoprotein (recessive) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low serum calcium
n1=en:calcinuria | n2=en:low serum calcium | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low to normal tsh (values may vary depending on the measurement methods used)
n1=en:calcinuria | n2=en:low to normal tsh (values may vary depending on the measurement methods used) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:low urinary cyclic amp response to pth administration
n1=en:calcinuria | n2=en:low urinary cyclic amp response to pth administration | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:lysosomal-like storage vacuoles in various tissues
n1=en:calcinuria | n2=en:lysosomal-like storage vacuoles in various tissues | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:marked elevation of erythrocyte sedimentation rate
n1=en:calcinuria | n2=en:marked elevation of erythrocyte sedimentation rate | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:markedly increased serum creatine kinase
n1=en:calcinuria | n2=en:markedly increased serum creatine kinase | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:metabolic acidosis
n1=en:calcinuria | n2=en:metabolic acidosis | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs
n1=en:calcinuria | n2=en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:mild elevation of triglycerides
n1=en:calcinuria | n2=en:mild elevation of triglycerides | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:mild-moderate prolonged bleeding time
n1=en:calcinuria | n2=en:mild-moderate prolonged bleeding time | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:mildly decreased phosphaturic response to pth administration has been reported in some cases
n1=en:calcinuria | n2=en:mildly decreased phosphaturic response to pth administration has been reported in some cases | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:mildly elevated urinary mevalonic acid
n1=en:calcinuria | n2=en:mildly elevated urinary mevalonic acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:moderate to severe thrombocytopenia (30-90 x 10(9)/l)
n1=en:calcinuria | n2=en:moderate to severe thrombocytopenia (30-90 x 10(9)/l) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:molybdenum cofactor deficiency
n1=en:calcinuria | n2=en:molybdenum cofactor deficiency | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes
n1=en:calcinuria | n2=en:multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes
n1=en:calcinuria | n2=en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:neutropenia
n1=en:calcinuria | n2=en:neutropenia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:no chromosomal breakage
n1=en:calcinuria | n2=en:no chromosomal breakage | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:no evidence of common prenatal infections
n1=en:calcinuria | n2=en:no evidence of common prenatal infections | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal dermal hydroxylysine content
n1=en:calcinuria | n2=en:normal dermal hydroxylysine content | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal erythrocyte gs activity
n1=en:calcinuria | n2=en:normal erythrocyte gs activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal extrarenal responses to ddavp administration
n1=en:calcinuria | n2=en:normal extrarenal responses to ddavp administration | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation
n1=en:calcinuria | n2=en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal isoelectric focusing of apolipoprotein ciii
n1=en:calcinuria | n2=en:normal isoelectric focusing of apolipoprotein ciii | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal lysyl oxidase activity
n1=en:calcinuria | n2=en:normal lysyl oxidase activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal or mildly increased serum gamma-ggt (231950)
n1=en:calcinuria | n2=en:normal or mildly increased serum gamma-ggt (231950) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal phytanic acid
n1=en:calcinuria | n2=en:normal phytanic acid | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal plasma renin
n1=en:calcinuria | n2=en:normal plasma renin | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal renin level
n1=en:calcinuria | n2=en:normal renin level | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal sedimentation rate
n1=en:calcinuria | n2=en:normal sedimentation rate | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normal serum lipoprotein levels
n1=en:calcinuria | n2=en:normal serum lipoprotein levels | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:normocalcemia
n1=en:calcinuria | n2=en:normocalcemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:organic aciduria
n1=en:calcinuria | n2=en:organic aciduria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:ornithine-delta-aminotransferase (oat) deficiency
n1=en:calcinuria | n2=en:ornithine-delta-aminotransferase (oat) deficiency | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:parathyroid hormone (pth) absent to low
n1=en:calcinuria | n2=en:parathyroid hormone (pth) absent to low | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:pentagastrin stimulation test
n1=en:calcinuria | n2=en:pentagastrin stimulation test | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:persistent ebv viremia
n1=en:calcinuria | n2=en:persistent ebv viremia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:plasma aldosterone increased
n1=en:calcinuria | n2=en:plasma aldosterone increased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:platelet factor 4 decreased
n1=en:calcinuria | n2=en:platelet factor 4 decreased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:platelet function test normal
n1=en:calcinuria | n2=en:platelet function test normal | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt)
n1=en:calcinuria | n2=en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:prolinuria
n1=en:calcinuria | n2=en:prolinuria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:prolonged bleeding time (10 - >30 minutes)
n1=en:calcinuria | n2=en:prolonged bleeding time (10 - >30 minutes) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:prolonged prothrombin time (pt)
n1=en:calcinuria | n2=en:prolonged prothrombin time (pt) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:protein total decreased
n1=en:calcinuria | n2=en:protein total decreased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:pyrimidinuria
n1=en:calcinuria | n2=en:pyrimidinuria | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:reduced beating amplitudes in cilia
n1=en:calcinuria | n2=en:reduced beating amplitudes in cilia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:reduced ige levels
n1=en:calcinuria | n2=en:reduced ige levels | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:reduced platelet aggregation response to adp, collagen, epinephrine
n1=en:calcinuria | n2=en:reduced platelet aggregation response to adp, collagen, epinephrine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:respiratory epithelial show lack of ciliary movement or abnormal movement
n1=en:calcinuria | n2=en:respiratory epithelial show lack of ciliary movement or abnormal movement | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:reticulocyte count increased
n1=en:calcinuria | n2=en:reticulocyte count increased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect
n1=en:calcinuria | n2=en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum albumin low result
n1=en:calcinuria | n2=en:serum albumin low result | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum c-reactive protein may be increased
n1=en:calcinuria | n2=en:serum c-reactive protein may be increased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum carnitine deficiency
n1=en:calcinuria | n2=en:serum carnitine deficiency | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum cholesterol normal
n1=en:calcinuria | n2=en:serum cholesterol normal | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum complement decreased
n1=en:calcinuria | n2=en:serum complement decreased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum copper decreased
n1=en:calcinuria | n2=en:serum copper decreased | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum creatine kinase may be normal
n1=en:calcinuria | n2=en:serum creatine kinase may be normal | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum ferritin hyperglycosylation
n1=en:calcinuria | n2=en:serum ferritin hyperglycosylation | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum phosphate concentration below normal
n1=en:calcinuria | n2=en:serum phosphate concentration below normal | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:serum transferrin glycosylation is normal
n1=en:calcinuria | n2=en:serum transferrin glycosylation is normal | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:severe thrombocytopenia (30-60 x 10(9)/l)
n1=en:calcinuria | n2=en:severe thrombocytopenia (30-60 x 10(9)/l) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:slightly increased serum alkaline phosphatase may occur
n1=en:calcinuria | n2=en:slightly increased serum alkaline phosphatase may occur | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine
n1=en:calcinuria | n2=en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:submucosal macrophages filled with sphingolipids
n1=en:calcinuria | n2=en:submucosal macrophages filled with sphingolipids | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:t-cell deficit
n1=en:calcinuria | n2=en:t-cell deficit | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l)
n1=en:calcinuria | n2=en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:thyroid dyshormonogenesis 5
n1=en:calcinuria | n2=en:thyroid dyshormonogenesis 5 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:transient eosinophilia in first decade
n1=en:calcinuria | n2=en:transient eosinophilia in first decade | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:transient neonatal hypocalcemia (2p21del)
n1=en:calcinuria | n2=en:transient neonatal hypocalcemia (2p21del) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:translocation between 18q21 and 14q32
n1=en:calcinuria | n2=en:translocation between 18q21 and 14q32 | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:type ii, normal antithrombin iii level but decreased activity
n1=en:calcinuria | n2=en:type ii, normal antithrombin iii level but decreased activity | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:tyrosinemia
n1=en:calcinuria | n2=en:tyrosinemia | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers
n1=en:calcinuria | n2=en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:undetectable serum l-transferrin (homozygous patient)
n1=en:calcinuria | n2=en:undetectable serum l-transferrin (homozygous patient) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:upregulation of alpha-interferon-stimulated genes
n1=en:calcinuria | n2=en:upregulation of alpha-interferon-stimulated genes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:urinary excretion of 3-hydroxyisovaleric acid, chronic
n1=en:calcinuria | n2=en:urinary excretion of 3-hydroxyisovaleric acid, chronic | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:urinary excretion of cationic amino acids (lysine, arginine, ornithine)
n1=en:calcinuria | n2=en:urinary excretion of cationic amino acids (lysine, arginine, ornithine) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:urinary excretion of mucopolysaccharides
n1=en:calcinuria | n2=en:urinary excretion of mucopolysaccharides | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:urine odor, maple syrup
n1=en:calcinuria | n2=en:urine odor, maple syrup | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces
n1=en:calcinuria | n2=en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts
n1=en:calcinuria | n2=en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:vacuolated lymphocytes
n1=en:calcinuria | n2=en:vacuolated lymphocytes | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:very low leptin level
n1=en:calcinuria | n2=en:very low leptin level | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:vitamin b12 deficiency (uncommon)
n1=en:calcinuria | n2=en:vitamin b12 deficiency (uncommon) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 27 / 0.9 ->
en:widespread interstitial fibrosis (visceral organs)
n1=en:calcinuria | n2=en:widespread interstitial fibrosis (visceral organs) | rel=r_associated | relid=0 | w=27
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
calcium
n1=en:calcinuria | n2=calcium | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
calciurie
n1=en:calcinuria | n2=calciurie | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:5-hiaa csf may be normal or decreased
n1=en:calcinuria | n2=en:5-hiaa csf may be normal or decreased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:a subset of group b patients have absence of pc protein and mrna
n1=en:calcinuria | n2=en:a subset of group b patients have absence of pc protein and mrna | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal electrophoretic mobility of type ii collagen
n1=en:calcinuria | n2=en:abnormal electrophoretic mobility of type ii collagen | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal fecal fat
n1=en:calcinuria | n2=en:abnormal fecal fat | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal liver enzymes (rare)
n1=en:calcinuria | n2=en:abnormal liver enzymes (rare) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal liver function test
n1=en:calcinuria | n2=en:abnormal liver function test | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal liver function tests during pregnancy, resolves postpartum
n1=en:calcinuria | n2=en:abnormal liver function tests during pregnancy, resolves postpartum | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal response to human chorionic gonadotropin indicates decreased testosterone
n1=en:calcinuria | n2=en:abnormal response to human chorionic gonadotropin indicates decreased testosterone | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal schilling test (not normalized by addition of intrinsic factor)
n1=en:calcinuria | n2=en:abnormal schilling test (not normalized by addition of intrinsic factor) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:abnormal serum transferrin pattern (in some patients)
n1=en:calcinuria | n2=en:abnormal serum transferrin pattern (in some patients) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:absent axonal flare response to intradermal histamine injection
n1=en:calcinuria | n2=en:absent axonal flare response to intradermal histamine injection | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986
n1=en:calcinuria | n2=en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:absent/reduced free proteins and absent total protein s
n1=en:calcinuria | n2=en:absent/reduced free proteins and absent total protein s | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:acylglycinuria
n1=en:calcinuria | n2=en:acylglycinuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:alanine aminotransferase increased
n1=en:calcinuria | n2=en:alanine aminotransferase increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:albuminuria
n1=en:calcinuria | n2=en:albuminuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:aminoaciduria (in some patients)
n1=en:calcinuria | n2=en:aminoaciduria (in some patients) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:androgens increased
n1=en:calcinuria | n2=en:androgens increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:anti-tissue transglutaminase antibodies (anti-ttg)
n1=en:calcinuria | n2=en:anti-tissue transglutaminase antibodies (anti-ttg) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:b lymphocytopenia
n1=en:calcinuria | n2=en:b lymphocytopenia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:bile shows increased cholesterol/phospholipid ratio
n1=en:calcinuria | n2=en:bile shows increased cholesterol/phospholipid ratio | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:blood urea nitrogen increased
n1=en:calcinuria | n2=en:blood urea nitrogen increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:borderline elevated low-density lipoprotein
n1=en:calcinuria | n2=en:borderline elevated low-density lipoprotein | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:calcium normal
n1=en:calcinuria | n2=en:calcium normal | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)
n1=en:calcinuria | n2=en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:continuous urinary iodine loss
n1=en:calcinuria | n2=en:continuous urinary iodine loss | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:cystathioninuria (lab finding)
n1=en:calcinuria | n2=en:cystathioninuria (lab finding) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:cytoplasmic lamellar concentric inclusions
n1=en:calcinuria | n2=en:cytoplasmic lamellar concentric inclusions | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of 3-methylglutaconyl-coa hydratase
n1=en:calcinuria | n2=en:decreased activity of 3-methylglutaconyl-coa hydratase | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes
n1=en:calcinuria | n2=en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of mitochondrial complex i
n1=en:calcinuria | n2=en:decreased activity of mitochondrial complex i | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of mitochondrial respiratory complexes
n1=en:calcinuria | n2=en:decreased activity of mitochondrial respiratory complexes | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of phosphoglycerate kinase 1
n1=en:calcinuria | n2=en:decreased activity of phosphoglycerate kinase 1 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of ppt1
n1=en:calcinuria | n2=en:decreased activity of ppt1 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of pyruvate decarboxylase (e1 component)
n1=en:calcinuria | n2=en:decreased activity of pyruvate decarboxylase (e1 component) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh
n1=en:calcinuria | n2=en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased amount and activity of mitochondrial complexes i and iv
n1=en:calcinuria | n2=en:decreased amount and activity of mitochondrial complexes i and iv | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased atp synthase in muscle, heart, liver, and brain
n1=en:calcinuria | n2=en:decreased atp synthase in muscle, heart, liver, and brain | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased beta-galactosidase activity
n1=en:calcinuria | n2=en:decreased beta-galactosidase activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased c3 antigen
n1=en:calcinuria | n2=en:decreased c3 antigen | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased circulating renin level
n1=en:calcinuria | n2=en:decreased circulating renin level | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased cortisol-binding globulin
n1=en:calcinuria | n2=en:decreased cortisol-binding globulin | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased csf hypocretin
n1=en:calcinuria | n2=en:decreased csf hypocretin | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased csf pyridoxal
n1=en:calcinuria | n2=en:decreased csf pyridoxal | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased csf pyridoxal 5-prime-phosphate (plp)
n1=en:calcinuria | n2=en:decreased csf pyridoxal 5-prime-phosphate (plp) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased dna polymerase-gamma (polg, 174763) activity
n1=en:calcinuria | n2=en:decreased dna polymerase-gamma (polg, 174763) activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased free t(3)/free t(4)
n1=en:calcinuria | n2=en:decreased free t(3)/free t(4) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased glomerular filtration rate (gfr)
n1=en:calcinuria | n2=en:decreased glomerular filtration rate (gfr) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)
n1=en:calcinuria | n2=en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased levels of coenzyme q10 in skeletal muscle (5-35%)
n1=en:calcinuria | n2=en:decreased levels of coenzyme q10 in skeletal muscle (5-35%) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased levels of plasma factor viii in patients with type 2n
n1=en:calcinuria | n2=en:decreased levels of plasma factor viii in patients with type 2n | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased liver homogentisate 1,2-dioxygenase activity
n1=en:calcinuria | n2=en:decreased liver homogentisate 1,2-dioxygenase activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased long-chain fatty acid oxidation
n1=en:calcinuria | n2=en:decreased long-chain fatty acid oxidation | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased mitochondrial complex v assembly
n1=en:calcinuria | n2=en:decreased mitochondrial complex v assembly | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle
n1=en:calcinuria | n2=en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased or absent d-bifunctional protein activity and protein
n1=en:calcinuria | n2=en:decreased or absent d-bifunctional protein activity and protein | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased or absent dihydropyrimidine dehydrogenase activity
n1=en:calcinuria | n2=en:decreased or absent dihydropyrimidine dehydrogenase activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased or absent peroxisome acyl-coa oxidase activity and protein
n1=en:calcinuria | n2=en:decreased or absent peroxisome acyl-coa oxidase activity and protein | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased plasma apolipoprotein b (apob, 107730)
n1=en:calcinuria | n2=en:decreased plasma apolipoprotein b (apob, 107730) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased plasma lysine, glutamic acid, and glutamine
n1=en:calcinuria | n2=en:decreased plasma lysine, glutamic acid, and glutamine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased plasma serine
n1=en:calcinuria | n2=en:decreased plasma serine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased plasmalogens
n1=en:calcinuria | n2=en:decreased plasmalogens | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased red cell pyruvate kinase activity
n1=en:calcinuria | n2=en:decreased red cell pyruvate kinase activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased serum complement factor h
n1=en:calcinuria | n2=en:decreased serum complement factor h | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased serum igm
n1=en:calcinuria | n2=en:decreased serum igm | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:decreased ubiquinone-10
n1=en:calcinuria | n2=en:decreased ubiquinone-10 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:defect in mitochondrial and peroxisomal fission
n1=en:calcinuria | n2=en:defect in mitochondrial and peroxisomal fission | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:defect in n- and o-glycosylation
n1=en:calcinuria | n2=en:defect in n- and o-glycosylation | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:defect in oxidative phosphorylation
n1=en:calcinuria | n2=en:defect in oxidative phosphorylation | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity
n1=en:calcinuria | n2=en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:direct hyperbilirubinemia
n1=en:calcinuria | n2=en:direct hyperbilirubinemia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:electron microscopy of foam cells shows lamellar inclusions
n1=en:calcinuria | n2=en:electron microscopy of foam cells shows lamellar inclusions | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated ast and ldh, especially infantile-onset
n1=en:calcinuria | n2=en:elevated ast and ldh, especially infantile-onset | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated biopterin in csf
n1=en:calcinuria | n2=en:elevated biopterin in csf | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated dihydrobiopterin in csf
n1=en:calcinuria | n2=en:elevated dihydrobiopterin in csf | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated erythrocyte aicar (zmp)
n1=en:calcinuria | n2=en:elevated erythrocyte aicar (zmp) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated erythrocyte sedimentation rate (mean 90mm/h)
n1=en:calcinuria | n2=en:elevated erythrocyte sedimentation rate (mean 90mm/h) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated fasting triglycerides (seen in heterozygotes as well)
n1=en:calcinuria | n2=en:elevated fasting triglycerides (seen in heterozygotes as well) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated il6
n1=en:calcinuria | n2=en:elevated il6 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated liver enzymes
n1=en:calcinuria | n2=en:elevated liver enzymes | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated serum glutamic pyruvic transaminase (sgpt)
n1=en:calcinuria | n2=en:elevated serum glutamic pyruvic transaminase (sgpt) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated serum long-chain fatty acids
n1=en:calcinuria | n2=en:elevated serum long-chain fatty acids | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated uric acid on urinalysis (in some patients)
n1=en:calcinuria | n2=en:elevated uric acid on urinalysis (in some patients) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated urinary 3-methylglutarate
n1=en:calcinuria | n2=en:elevated urinary 3-methylglutarate | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated urinary delta-aminolevulinic acid
n1=en:calcinuria | n2=en:elevated urinary delta-aminolevulinic acid | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:elevated urine unsulfated chondroitin sulfate
n1=en:calcinuria | n2=en:elevated urine unsulfated chondroitin sulfate | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:excess protoporphyrin in bile and feces but not in urine
n1=en:calcinuria | n2=en:excess protoporphyrin in bile and feces but not in urine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:exercise-induced myoglobinuria
n1=en:calcinuria | n2=en:exercise-induced myoglobinuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:fibroblasts show elongated, tangled, tubular mitochondria
n1=en:calcinuria | n2=en:fibroblasts show elongated, tangled, tubular mitochondria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities
n1=en:calcinuria | n2=en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:folate-dependent fragile site at xq28
n1=en:calcinuria | n2=en:folate-dependent fragile site at xq28 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells
n1=en:calcinuria | n2=en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hair bulbs will pigment when incubated with tyrosine
n1=en:calcinuria | n2=en:hair bulbs will pigment when incubated with tyrosine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hawkinsinuria
n1=en:calcinuria | n2=en:hawkinsinuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hematuria
n1=en:calcinuria | n2=en:hematuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hemizygous deletion at 7q11.23
n1=en:calcinuria | n2=en:hemizygous deletion at 7q11.23 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hepatic carbamoylphosphate synthetase i deficiency
n1=en:calcinuria | n2=en:hepatic carbamoylphosphate synthetase i deficiency | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hepatic lipase deficiency (disorder)
n1=en:calcinuria | n2=en:hepatic lipase deficiency (disorder) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hepatic ornithine transcarbamylase deficiency
n1=en:calcinuria | n2=en:hepatic ornithine transcarbamylase deficiency | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:high ornithine
n1=en:calcinuria | n2=en:high ornithine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:high plasma citrulline (1000-5000 micromolar)
n1=en:calcinuria | n2=en:high plasma citrulline (1000-5000 micromolar) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hyperammonemia, asymptomatic (2-5 times normal)
n1=en:calcinuria | n2=en:hyperammonemia, asymptomatic (2-5 times normal) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hyperkalemia
n1=en:calcinuria | n2=en:hyperkalemia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hyperkalemia (7.5 +/- 0.9 mm)
n1=en:calcinuria | n2=en:hyperkalemia (7.5 +/- 0.9 mm) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hyperlipidemia
n1=en:calcinuria | n2=en:hyperlipidemia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hyperprostaglandinuria
n1=en:calcinuria | n2=en:hyperprostaglandinuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hypoxemia
n1=en:calcinuria | n2=en:hypoxemia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:hypoxia
n1=en:calcinuria | n2=en:hypoxia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:iiga and igg antigliadin antibodies (aga)
n1=en:calcinuria | n2=en:iiga and igg antigliadin antibodies (aga) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:impaired mitochondrial translation
n1=en:calcinuria | n2=en:impaired mitochondrial translation | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:inactive mutant form of red cell carbonic anhydrase b in one sibship
n1=en:calcinuria | n2=en:inactive mutant form of red cell carbonic anhydrase b in one sibship | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased biliverdin in bodily fluids
n1=en:calcinuria | n2=en:increased biliverdin in bodily fluids | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased bone-specific alkaline phosphatase
n1=en:calcinuria | n2=en:increased bone-specific alkaline phosphatase | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased csf pyruvic acid
n1=en:calcinuria | n2=en:increased csf pyruvic acid | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)
n1=en:calcinuria | n2=en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased plasma branched-chain fatty acids
n1=en:calcinuria | n2=en:increased plasma branched-chain fatty acids | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased plasma levels of very long-chain fatty acids (vlcfa)
n1=en:calcinuria | n2=en:increased plasma levels of very long-chain fatty acids (vlcfa) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased plasma pipecolic acid
n1=en:calcinuria | n2=en:increased plasma pipecolic acid | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased plasma vldl, ldl
n1=en:calcinuria | n2=en:increased plasma vldl, ldl | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum alkaline phosphatase activity of skeletal origin
n1=en:calcinuria | n2=en:increased serum alkaline phosphatase activity of skeletal origin | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum alpha-interferon (ifna1, 147660)
n1=en:calcinuria | n2=en:increased serum alpha-interferon (ifna1, 147660) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum beta-hexosaminidase (10-20x)
n1=en:calcinuria | n2=en:increased serum beta-hexosaminidase (10-20x) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum citrulline (group b)
n1=en:calcinuria | n2=en:increased serum citrulline (group b) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum iduronate sulfatase (10-20x)
n1=en:calcinuria | n2=en:increased serum iduronate sulfatase (10-20x) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum lactate
n1=en:calcinuria | n2=en:increased serum lactate | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)
n1=en:calcinuria | n2=en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum serotonin in 25%
n1=en:calcinuria | n2=en:increased serum serotonin in 25% | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum thyroid-stimulating hormone (tsh)
n1=en:calcinuria | n2=en:increased serum thyroid-stimulating hormone (tsh) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased serum transaminases (in 1 of 3 patients)
n1=en:calcinuria | n2=en:increased serum transaminases (in 1 of 3 patients) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased uric acid with exercise
n1=en:calcinuria | n2=en:increased uric acid with exercise | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased urinary adenosine
n1=en:calcinuria | n2=en:increased urinary adenosine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased urinary catecholamines (with pheochromocytoma)
n1=en:calcinuria | n2=en:increased urinary catecholamines (with pheochromocytoma) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased urinary excretion of camp
n1=en:calcinuria | n2=en:increased urinary excretion of camp | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased urinary glutaric acid
n1=en:calcinuria | n2=en:increased urinary glutaric acid | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased urinary uracil
n1=en:calcinuria | n2=en:increased urinary uracil | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:increased urinary, plasma, and csf n-carbamyl-beta-alanine
n1=en:calcinuria | n2=en:increased urinary, plasma, and csf n-carbamyl-beta-alanine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:intracellular glycosphingolipid deposition in all tissues of the body
n1=en:calcinuria | n2=en:intracellular glycosphingolipid deposition in all tissues of the body | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:keratan sulfate excretion in urine that decreases with age
n1=en:calcinuria | n2=en:keratan sulfate excretion in urine that decreases with age | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:ketonuria, acute
n1=en:calcinuria | n2=en:ketonuria, acute | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:laboratory abnormalities
n1=en:calcinuria | n2=en:laboratory abnormalities | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:lack of excessive parenchymal iron storage
n1=en:calcinuria | n2=en:lack of excessive parenchymal iron storage | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:lipid vacuoles in leukocytes (jordan bodies)
n1=en:calcinuria | n2=en:lipid vacuoles in leukocytes (jordan bodies) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low apolipoprotein
n1=en:calcinuria | n2=en:low apolipoprotein | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low cholesterol esterification rates
n1=en:calcinuria | n2=en:low cholesterol esterification rates | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low free carnitine
n1=en:calcinuria | n2=en:low free carnitine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low growth hormone levels
n1=en:calcinuria | n2=en:low growth hormone levels | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low levels of serum mg(2+) in the absence of other electrolyte disturbances
n1=en:calcinuria | n2=en:low levels of serum mg(2+) in the absence of other electrolyte disturbances | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low plasma arginine
n1=en:calcinuria | n2=en:low plasma arginine | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low rai (radioactive iodine) uptake
n1=en:calcinuria | n2=en:low rai (radioactive iodine) uptake | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low serum uric acid
n1=en:calcinuria | n2=en:low serum uric acid | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low to absent apo a-i (detroit 107680.0011)
n1=en:calcinuria | n2=en:low to absent apo a-i (detroit 107680.0011) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:low urinary orotic acid
n1=en:calcinuria | n2=en:low urinary orotic acid | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:lower total cholesterol
n1=en:calcinuria | n2=en:lower total cholesterol | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1
n1=en:calcinuria | n2=en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:march myoglobinuria
n1=en:calcinuria | n2=en:march myoglobinuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:markedly reduced iga levels
n1=en:calcinuria | n2=en:markedly reduced iga levels | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:methioninuria
n1=en:calcinuria | n2=en:methioninuria | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:mild elevation of transaminases
n1=en:calcinuria | n2=en:mild elevation of transaminases | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:mildly elevated hepatic enzymes
n1=en:calcinuria | n2=en:mildly elevated hepatic enzymes | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:moderately decreased to normal phk activity in skeletal muscle
n1=en:calcinuria | n2=en:moderately decreased to normal phk activity in skeletal muscle | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts
n1=en:calcinuria | n2=en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:nadh-cytochrome b(5) reductase deficiency
n1=en:calcinuria | n2=en:nadh-cytochrome b(5) reductase deficiency | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:no evidence of perinatal infection
n1=en:calcinuria | n2=en:no evidence of perinatal infection | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp
n1=en:calcinuria | n2=en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:no metabolic abnormalities
n1=en:calcinuria | n2=en:no metabolic abnormalities | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal arterial oxygen saturation
n1=en:calcinuria | n2=en:normal arterial oxygen saturation | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal baseline cortisol
n1=en:calcinuria | n2=en:normal baseline cortisol | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal ciliary structure and function
n1=en:calcinuria | n2=en:normal ciliary structure and function | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal eosinophil peroxidase activity
n1=en:calcinuria | n2=en:normal eosinophil peroxidase activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal exocrine pancreatic function
n1=en:calcinuria | n2=en:normal exocrine pancreatic function | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal g(s)-alpha levels (139320)
n1=en:calcinuria | n2=en:normal g(s)-alpha levels (139320) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal isoelectric focusing of serum transferrin
n1=en:calcinuria | n2=en:normal isoelectric focusing of serum transferrin | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal lysosomal hydrolases
n1=en:calcinuria | n2=en:normal lysosomal hydrolases | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal maltase, isomaltase, and sucrase activity
n1=en:calcinuria | n2=en:normal maltase, isomaltase, and sucrase activity | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal or increased serum creatine kinase
n1=en:calcinuria | n2=en:normal or increased serum creatine kinase | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal or mildly increased serum creatine kinase
n1=en:calcinuria | n2=en:normal or mildly increased serum creatine kinase | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal or mildly increased thyroid-stimulating hormone (tsh)
n1=en:calcinuria | n2=en:normal or mildly increased thyroid-stimulating hormone (tsh) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal serum 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:normal serum 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal serum 25-hydroxyvitamin d3
n1=en:calcinuria | n2=en:normal serum 25-hydroxyvitamin d3 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:normal serum cobalamin
n1=en:calcinuria | n2=en:normal serum cobalamin | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:oestradiol decreased
n1=en:calcinuria | n2=en:oestradiol decreased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:paradoxical increased cortisol secretion on dexamethasone suppression test
n1=en:calcinuria | n2=en:paradoxical increased cortisol secretion on dexamethasone suppression test | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:partial terminal deletion of short arm of chromosome 1 (1p36)
n1=en:calcinuria | n2=en:partial terminal deletion of short arm of chromosome 1 (1p36) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:plasma aldosterone normal
n1=en:calcinuria | n2=en:plasma aldosterone normal | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:plasma protein c deficiency
n1=en:calcinuria | n2=en:plasma protein c deficiency | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:platelet antibody positive
n1=en:calcinuria | n2=en:platelet antibody positive | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients
n1=en:calcinuria | n2=en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:primary immunoglobulin-related amyloidosis (al)
n1=en:calcinuria | n2=en:primary immunoglobulin-related amyloidosis (al) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:prolonged prothrombin and partial thromboplastin times
n1=en:calcinuria | n2=en:prolonged prothrombin and partial thromboplastin times | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:protein c decreased
n1=en:calcinuria | n2=en:protein c decreased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:protein urine absent
n1=en:calcinuria | n2=en:protein urine absent | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:pseudohypertriglyceridemia in adult form
n1=en:calcinuria | n2=en:pseudohypertriglyceridemia in adult form | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:pyruvate-induced insulin secretion
n1=en:calcinuria | n2=en:pyruvate-induced insulin secretion | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate
n1=en:calcinuria | n2=en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:reduced iga
n1=en:calcinuria | n2=en:reduced iga | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:reduced igg levels, particularly igg2 subclass
n1=en:calcinuria | n2=en:reduced igg levels, particularly igg2 subclass | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:resistance to 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:resistance to 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:reticulocytosis
n1=en:calcinuria | n2=en:reticulocytosis | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:sce normal in heterozygotes
n1=en:calcinuria | n2=en:sce normal in heterozygotes | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:serum alkaline phosphatase normal or mildly increased
n1=en:calcinuria | n2=en:serum alkaline phosphatase normal or mildly increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:serum and csf lactate may be increased
n1=en:calcinuria | n2=en:serum and csf lactate may be increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:serum iron low (finding)
n1=en:calcinuria | n2=en:serum iron low (finding) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:serum triglycerides increased
n1=en:calcinuria | n2=en:serum triglycerides increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues
n1=en:calcinuria | n2=en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:sialylation defects
n1=en:calcinuria | n2=en:sialylation defects | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:skewed x-inactivation in females
n1=en:calcinuria | n2=en:skewed x-inactivation in females | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:slightly elevated 24-hour mean plasma cortisol
n1=en:calcinuria | n2=en:slightly elevated 24-hour mean plasma cortisol | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:smooth muscle antibodies positive
n1=en:calcinuria | n2=en:smooth muscle antibodies positive | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:some fragmented or disrupted golgi
n1=en:calcinuria | n2=en:some fragmented or disrupted golgi | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:t-lymphocytopenia
n1=en:calcinuria | n2=en:t-lymphocytopenia | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:t1 transport protein (glucose-6-phosphate translocase) defect
n1=en:calcinuria | n2=en:t1 transport protein (glucose-6-phosphate translocase) defect | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:thymic hormone decreased
n1=en:calcinuria | n2=en:thymic hormone decreased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:tsh decreased
n1=en:calcinuria | n2=en:tsh decreased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:type 1 collagen overmodification
n1=en:calcinuria | n2=en:type 1 collagen overmodification | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:ultra large von willebrand factor (ul-vwf) in plasma
n1=en:calcinuria | n2=en:ultra large von willebrand factor (ul-vwf) in plasma | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:unresponsive to acth stimulation
n1=en:calcinuria | n2=en:unresponsive to acth stimulation | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp)
n1=en:calcinuria | n2=en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp) | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:urine occasionally port-wine in color secondary to porphobilinogen
n1=en:calcinuria | n2=en:urine occasionally port-wine in color secondary to porphobilinogen | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:variable defects of inner dynein arms
n1=en:calcinuria | n2=en:variable defects of inner dynein arms | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:very low density lipoprotein increased
n1=en:calcinuria | n2=en:very low density lipoprotein increased | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 26 / 0.867 ->
en:vitamin k deficiency
n1=en:calcinuria | n2=en:vitamin k deficiency | rel=r_associated | relid=0 | w=26
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)
n1=en:calcinuria | n2=en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abacterial leukocyturia
n1=en:calcinuria | n2=en:abacterial leukocyturia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abetalipoproteinemia (lab finding)
n1=en:calcinuria | n2=en:abetalipoproteinemia (lab finding) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abnormal cardiolipin subspecies composition
n1=en:calcinuria | n2=en:abnormal cardiolipin subspecies composition | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)
n1=en:calcinuria | n2=en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abnormal lipid profile
n1=en:calcinuria | n2=en:abnormal lipid profile | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abnormal nuclear morphology
n1=en:calcinuria | n2=en:abnormal nuclear morphology | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio)
n1=en:calcinuria | n2=en:abnormal phosphatidylglycerol profile (increased 34-to-1 and decreased 36-to-1 ratio) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:abnormal phospholipid profile
n1=en:calcinuria | n2=en:abnormal phospholipid profile | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:absence of emerin by immunohistochemistry on muscle biopsy
n1=en:calcinuria | n2=en:absence of emerin by immunohistochemistry on muscle biopsy | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:absent alkyl-dhap synthase activity
n1=en:calcinuria | n2=en:absent alkyl-dhap synthase activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:absent axonal flare response after intradermal histamine injection
n1=en:calcinuria | n2=en:absent axonal flare response after intradermal histamine injection | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:absent pro alpha 2(i) chain synthesis (fibroblasts)
n1=en:calcinuria | n2=en:absent pro alpha 2(i) chain synthesis (fibroblasts) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:accumulation of cholesterol esters in various tissues
n1=en:calcinuria | n2=en:accumulation of cholesterol esters in various tissues | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:acute-phase reactants during fever
n1=en:calcinuria | n2=en:acute-phase reactants during fever | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:adrenocorticotropic hormone, increased
n1=en:calcinuria | n2=en:adrenocorticotropic hormone, increased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:alpha ketoadipic aciduria
n1=en:calcinuria | n2=en:alpha ketoadipic aciduria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:alpha-fetoprotein normal
n1=en:calcinuria | n2=en:alpha-fetoprotein normal | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:blunted cortisol response to adrenocorticotropic hormone (acth)
n1=en:calcinuria | n2=en:blunted cortisol response to adrenocorticotropic hormone (acth) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes)
n1=en:calcinuria | n2=en:carnitine palmitoyltransferase i deficiency (fibroblast, liver, leukocytes) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:cd4+/cd8+ ratio is reversed
n1=en:calcinuria | n2=en:cd4+/cd8+ ratio is reversed | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:cells show increased sensitivity to ionizing radiation
n1=en:calcinuria | n2=en:cells show increased sensitivity to ionizing radiation | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:ceruloplasmin decreased
n1=en:calcinuria | n2=en:ceruloplasmin decreased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva
n1=en:calcinuria | n2=en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:contiguous gene deletion syndrome
n1=en:calcinuria | n2=en:contiguous gene deletion syndrome | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:creatine phosphokinase increased
n1=en:calcinuria | n2=en:creatine phosphokinase increased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:cystathionine beta-synthase deficiency disease
n1=en:calcinuria | n2=en:cystathionine beta-synthase deficiency disease | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients)
n1=en:calcinuria | n2=en:cytoplasmic lamellar inclusions consistent with neuronal ceroid lipofuscinosis (in some patients) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase
n1=en:calcinuria | n2=en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls)
n1=en:calcinuria | n2=en:decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased ciliary motility
n1=en:calcinuria | n2=en:decreased ciliary motility | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased clot retraction
n1=en:calcinuria | n2=en:decreased clot retraction | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased complement factor d
n1=en:calcinuria | n2=en:decreased complement factor d | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased csf arginine
n1=en:calcinuria | n2=en:decreased csf arginine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased levels of cellular and mitochondrial fes-containing proteins
n1=en:calcinuria | n2=en:decreased levels of cellular and mitochondrial fes-containing proteins | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased monoamine oxidase a activity
n1=en:calcinuria | n2=en:decreased monoamine oxidase a activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased nasal nitric oxide
n1=en:calcinuria | n2=en:decreased nasal nitric oxide | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased or absent alpha-n-acetylgalactosaminidase activity
n1=en:calcinuria | n2=en:decreased or absent alpha-n-acetylgalactosaminidase activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased or absent alpha-n-acetylgalactosaminidase protein
n1=en:calcinuria | n2=en:decreased or absent alpha-n-acetylgalactosaminidase protein | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased or absent serum ceruloplasmin
n1=en:calcinuria | n2=en:decreased or absent serum ceruloplasmin | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased or normal serum c3
n1=en:calcinuria | n2=en:decreased or normal serum c3 | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased secretion of igf1 in response to gh administration
n1=en:calcinuria | n2=en:decreased secretion of igf1 in response to gh administration | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased serum and muscle coenzyme q
n1=en:calcinuria | n2=en:decreased serum and muscle coenzyme q | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased serum androgens
n1=en:calcinuria | n2=en:decreased serum androgens | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased serum vitamin a
n1=en:calcinuria | n2=en:decreased serum vitamin a | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:decreased sulfite oxidase activity in fibroblasts
n1=en:calcinuria | n2=en:decreased sulfite oxidase activity in fibroblasts | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:defective (ca2+) mobilization in t cells
n1=en:calcinuria | n2=en:defective (ca2+) mobilization in t cells | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:defective glcnac-pi synthesis
n1=en:calcinuria | n2=en:defective glcnac-pi synthesis | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:deficiency of laminin in basement membranes
n1=en:calcinuria | n2=en:deficiency of laminin in basement membranes | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:deficiency of serum properdin p factor
n1=en:calcinuria | n2=en:deficiency of serum properdin p factor | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:deficiency or absence of p22-phox protein
n1=en:calcinuria | n2=en:deficiency or absence of p22-phox protein | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:deficient efflux of intracellular cholesterol
n1=en:calcinuria | n2=en:deficient efflux of intracellular cholesterol | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts
n1=en:calcinuria | n2=en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:deletion of chromosome 18p11.2
n1=en:calcinuria | n2=en:deletion of chromosome 18p11.2 | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:duplication or deletion at 11p15.5
n1=en:calcinuria | n2=en:duplication or deletion at 11p15.5 | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:dyslipidemia
n1=en:calcinuria | n2=en:dyslipidemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:electron microscopy of patient respiratory cells shows absent outer dynein arms
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows absent outer dynein arms | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)
n1=en:calcinuria | n2=en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated alkaline phosphatase of bone origin
n1=en:calcinuria | n2=en:elevated alkaline phosphatase of bone origin | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated apoa-i (1.8x normal) in homozygotes
n1=en:calcinuria | n2=en:elevated apoa-i (1.8x normal) in homozygotes | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated plasma acth
n1=en:calcinuria | n2=en:elevated plasma acth | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated plasma adrenocorticotropic hormone (acth)
n1=en:calcinuria | n2=en:elevated plasma adrenocorticotropic hormone (acth) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated plasma stigmasterol
n1=en:calcinuria | n2=en:elevated plasma stigmasterol | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated pth (parathyroid hormone)
n1=en:calcinuria | n2=en:elevated pth (parathyroid hormone) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated pyruvate (in most patients)
n1=en:calcinuria | n2=en:elevated pyruvate (in most patients) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated serum iron and iron binding capacity
n1=en:calcinuria | n2=en:elevated serum iron and iron binding capacity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated total iron-binding capacity
n1=en:calcinuria | n2=en:elevated total iron-binding capacity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:elevated urinary 2-ethylhydracrylate
n1=en:calcinuria | n2=en:elevated urinary 2-ethylhydracrylate | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:excessive urinary 5-oxo-l-proline
n1=en:calcinuria | n2=en:excessive urinary 5-oxo-l-proline | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:fasting ketosis
n1=en:calcinuria | n2=en:fasting ketosis | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:fibroblasts are small and rounded with prominent nucleoli
n1=en:calcinuria | n2=en:fibroblasts are small and rounded with prominent nucleoli | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:fibroblasts show decreased mitochondrial complex v activity
n1=en:calcinuria | n2=en:fibroblasts show decreased mitochondrial complex v activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:fibroblasts show lamellar lysosomal inclusions on electron microscopy
n1=en:calcinuria | n2=en:fibroblasts show lamellar lysosomal inclusions on electron microscopy | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:fucosidosis
n1=en:calcinuria | n2=en:fucosidosis | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:galactosuria
n1=en:calcinuria | n2=en:galactosuria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:globulin gamma serum plasma increased result
n1=en:calcinuria | n2=en:globulin gamma serum plasma increased result | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:glucose-6-phosphate deficiency
n1=en:calcinuria | n2=en:glucose-6-phosphate deficiency | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:glutaric aciduria
n1=en:calcinuria | n2=en:glutaric aciduria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:glutathione deficiency
n1=en:calcinuria | n2=en:glutathione deficiency | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:glyoxalase deficiency
n1=en:calcinuria | n2=en:glyoxalase deficiency | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:gonadotrophin increased
n1=en:calcinuria | n2=en:gonadotrophin increased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hematuria, gross and microscopic
n1=en:calcinuria | n2=en:hematuria, gross and microscopic | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hematuria, macroscopic and microscopic
n1=en:calcinuria | n2=en:hematuria, macroscopic and microscopic | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:high ft3/ft4 ratio
n1=en:calcinuria | n2=en:high ft3/ft4 ratio | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:high serum guanosine levels
n1=en:calcinuria | n2=en:high serum guanosine levels | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:high serum inosine levels
n1=en:calcinuria | n2=en:high serum inosine levels | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:high urinary orotic acid
n1=en:calcinuria | n2=en:high urinary orotic acid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:howell-jolly bodies seen in peripheral blood smear
n1=en:calcinuria | n2=en:howell-jolly bodies seen in peripheral blood smear | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hydrocortisone decreased
n1=en:calcinuria | n2=en:hydrocortisone decreased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hyperammonemia
n1=en:calcinuria | n2=en:hyperammonemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hyperammonemia after protein intake
n1=en:calcinuria | n2=en:hyperammonemia after protein intake | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hyperbilirubinemia, unconjugated, 20-30mg/dl
n1=en:calcinuria | n2=en:hyperbilirubinemia, unconjugated, 20-30mg/dl | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hypercalciuria (in childhood)
n1=en:calcinuria | n2=en:hypercalciuria (in childhood) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hypercalciuria (in some patients)
n1=en:calcinuria | n2=en:hypercalciuria (in some patients) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hypernatriuria
n1=en:calcinuria | n2=en:hypernatriuria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hypoalbuminemia
n1=en:calcinuria | n2=en:hypoalbuminemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hypoglycemia, fasting
n1=en:calcinuria | n2=en:hypoglycemia, fasting | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:hypokalemia during periodic paralysis (most patients)
n1=en:calcinuria | n2=en:hypokalemia during periodic paralysis (most patients) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:igg, elevated
n1=en:calcinuria | n2=en:igg, elevated | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:impaired o-glycosylation
n1=en:calcinuria | n2=en:impaired o-glycosylation | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:incomplete n-glycosylation of cellular proteins
n1=en:calcinuria | n2=en:incomplete n-glycosylation of cellular proteins | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased 18-ohb to aldosterone ratio
n1=en:calcinuria | n2=en:increased 18-ohb to aldosterone ratio | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased creatinine
n1=en:calcinuria | n2=en:increased creatinine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased csf immunoglobulin levels
n1=en:calcinuria | n2=en:increased csf immunoglobulin levels | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3
n1=en:calcinuria | n2=en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3 | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased harderoporphyrin excretion (feces, harderoporphyria)
n1=en:calcinuria | n2=en:increased harderoporphyrin excretion (feces, harderoporphyria) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased ige level
n1=en:calcinuria | n2=en:increased ige level | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased igm level
n1=en:calcinuria | n2=en:increased igm level | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased il-8
n1=en:calcinuria | n2=en:increased il-8 | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased il1b increased soluble il2r
n1=en:calcinuria | n2=en:increased il1b increased soluble il2r | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased long-chain acylcarnitine
n1=en:calcinuria | n2=en:increased long-chain acylcarnitine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased lysine in serum and csf
n1=en:calcinuria | n2=en:increased lysine in serum and csf | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased plasma creatine
n1=en:calcinuria | n2=en:increased plasma creatine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased pristanic acid
n1=en:calcinuria | n2=en:increased pristanic acid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum acylcarnitine during febrile crisis
n1=en:calcinuria | n2=en:increased serum acylcarnitine during febrile crisis | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum and csf glycine
n1=en:calcinuria | n2=en:increased serum and csf glycine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum bile acid concentration during pregnancy, resolves postpartum
n1=en:calcinuria | n2=en:increased serum bile acid concentration during pregnancy, resolves postpartum | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum creatine kinase in acute stage
n1=en:calcinuria | n2=en:increased serum creatine kinase in acute stage | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum ige
n1=en:calcinuria | n2=en:increased serum ige | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum lactate dehydrogenase (in 1 family)
n1=en:calcinuria | n2=en:increased serum lactate dehydrogenase (in 1 family) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased serum s-adenosylhomocysteine
n1=en:calcinuria | n2=en:increased serum s-adenosylhomocysteine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased transferrin saturation (>60%)
n1=en:calcinuria | n2=en:increased transferrin saturation (>60%) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased urinary 2-alpha-ketoglutaric acid
n1=en:calcinuria | n2=en:increased urinary 2-alpha-ketoglutaric acid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased urinary 2-methyl-3-hydroxybutyric acid
n1=en:calcinuria | n2=en:increased urinary 2-methyl-3-hydroxybutyric acid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased urinary 3-methylglutaconic acid
n1=en:calcinuria | n2=en:increased urinary 3-methylglutaconic acid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased urinary catecholamines
n1=en:calcinuria | n2=en:increased urinary catecholamines | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks
n1=en:calcinuria | n2=en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:increased urinary malic acid
n1=en:calcinuria | n2=en:increased urinary malic acid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:indirect bilirubin increased
n1=en:calcinuria | n2=en:indirect bilirubin increased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:isochromosome often missing in lymphocyte
n1=en:calcinuria | n2=en:isochromosome often missing in lymphocyte | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:keratan sulfaturia in some patients
n1=en:calcinuria | n2=en:keratan sulfaturia in some patients | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:lactate high
n1=en:calcinuria | n2=en:lactate high | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:lactate pyruvate ratio normal
n1=en:calcinuria | n2=en:lactate pyruvate ratio normal | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas
n1=en:calcinuria | n2=en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:low copper and ceruloplasmin
n1=en:calcinuria | n2=en:low copper and ceruloplasmin | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:low csf creatine
n1=en:calcinuria | n2=en:low csf creatine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:low ldl cholesterol
n1=en:calcinuria | n2=en:low ldl cholesterol | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:low leukocyte alkaline phosphatase activity
n1=en:calcinuria | n2=en:low leukocyte alkaline phosphatase activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:marked hypoalphalipoproteinemia (in some patients)
n1=en:calcinuria | n2=en:marked hypoalphalipoproteinemia (in some patients) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:marked hypobetalipoproteinemia
n1=en:calcinuria | n2=en:marked hypobetalipoproteinemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:mean platelet volume (mpv) 12.6fl
n1=en:calcinuria | n2=en:mean platelet volume (mpv) 12.6fl | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:medium chain dicarboxylic aciduria
n1=en:calcinuria | n2=en:medium chain dicarboxylic aciduria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:microdeletion of chromosome 11q13 (43-490kb)
n1=en:calcinuria | n2=en:microdeletion of chromosome 11q13 (43-490kb) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:mild to moderate hyperammonemia
n1=en:calcinuria | n2=en:mild to moderate hyperammonemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:mitochondria dna deletion
n1=en:calcinuria | n2=en:mitochondria dna deletion | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:mosaic tetrasomy 12p in skin fibroblasts
n1=en:calcinuria | n2=en:mosaic tetrasomy 12p in skin fibroblasts | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes
n1=en:calcinuria | n2=en:multiple visceral organs (lung, liver, spleen, kidney) contain foamy resident cells and histiocytes | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:myelin basic protein measurement, spinal fluid
n1=en:calcinuria | n2=en:myelin basic protein measurement, spinal fluid | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells)
n1=en:calcinuria | n2=en:neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:no dicarboxylic aciduria
n1=en:calcinuria | n2=en:no dicarboxylic aciduria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:no hematuria
n1=en:calcinuria | n2=en:no hematuria | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:no lactic acidosis
n1=en:calcinuria | n2=en:no lactic acidosis | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal lactate (hcs)
n1=en:calcinuria | n2=en:normal lactate (hcs) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal liver histology
n1=en:calcinuria | n2=en:normal liver histology | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal lysyl hydroxylase activity
n1=en:calcinuria | n2=en:normal lysyl hydroxylase activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal serum and mucosal iga
n1=en:calcinuria | n2=en:normal serum and mucosal iga | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal serum phosphorus
n1=en:calcinuria | n2=en:normal serum phosphorus | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol)
n1=en:calcinuria | n2=en:normal to elevated serum 1,25-dihydroxycholecalciferol (calcitriol) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal tyrosinase
n1=en:calcinuria | n2=en:normal tyrosinase | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:normal urinary cyclic amp response to pth administration
n1=en:calcinuria | n2=en:normal urinary cyclic amp response to pth administration | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:occasional hypomagnesemia
n1=en:calcinuria | n2=en:occasional hypomagnesemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21
n1=en:calcinuria | n2=en:other cytogenic abnormalities have been associated with dgs phenotype including monosomy 10p13, 11p13, and 4q21 | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:patient cells show increased chromosome breakage
n1=en:calcinuria | n2=en:patient cells show increased chromosome breakage | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv
n1=en:calcinuria | n2=en:patient fibroblasts and muscle show decreased activities of mitochondrial complexes i, iii, and iv | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:pcs involves most of all chromosomes of a metaphase
n1=en:calcinuria | n2=en:pcs involves most of all chromosomes of a metaphase | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver
n1=en:calcinuria | n2=en:phosphomannomutase deficiency in leukocytes, fibroblasts, or liver | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:pink urine
n1=en:calcinuria | n2=en:pink urine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:plasma ammonia not elevated
n1=en:calcinuria | n2=en:plasma ammonia not elevated | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:plasma catecholamines decreased
n1=en:calcinuria | n2=en:plasma catecholamines decreased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:pms show decreased levels of hepatic cyp2d6 enzyme
n1=en:calcinuria | n2=en:pms show decreased levels of hepatic cyp2d6 enzyme | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:polycythemia
n1=en:calcinuria | n2=en:polycythemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:poor mitogenic response to growth factors
n1=en:calcinuria | n2=en:poor mitogenic response to growth factors | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:positive kveim-siltzbach skin test
n1=en:calcinuria | n2=en:positive kveim-siltzbach skin test | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:prolonged bleeding time
n1=en:calcinuria | n2=en:prolonged bleeding time | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:propionic acidemia
n1=en:calcinuria | n2=en:propionic acidemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:pyruvic acidemia
n1=en:calcinuria | n2=en:pyruvic acidemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase)
n1=en:calcinuria | n2=en:reduced (50%) activity of protoporphyrinogen oxidase (proto oxidase) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:reduced ferrochelatase activity
n1=en:calcinuria | n2=en:reduced ferrochelatase activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:reduced platelet aggregation response to collagen and thrombin
n1=en:calcinuria | n2=en:reduced platelet aggregation response to collagen and thrombin | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:routine liver function tests normal
n1=en:calcinuria | n2=en:routine liver function tests normal | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:secondary decreases in complex i and iv activity
n1=en:calcinuria | n2=en:secondary decreases in complex i and iv activity | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:sepiapterin reductase deficiency (fibroblasts)
n1=en:calcinuria | n2=en:sepiapterin reductase deficiency (fibroblasts) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum bicarbonate increased
n1=en:calcinuria | n2=en:serum bicarbonate increased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum chloride level decreased (finding)
n1=en:calcinuria | n2=en:serum chloride level decreased (finding) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum cholesterol low or normal
n1=en:calcinuria | n2=en:serum cholesterol low or normal | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum corticosterone increased
n1=en:calcinuria | n2=en:serum corticosterone increased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum lactate is usually normal
n1=en:calcinuria | n2=en:serum lactate is usually normal | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum lactate may be increased during encephalopathic exacerbations
n1=en:calcinuria | n2=en:serum lactate may be increased during encephalopathic exacerbations | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum osmolality decreased
n1=en:calcinuria | n2=en:serum osmolality decreased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:serum prolactin decreased
n1=en:calcinuria | n2=en:serum prolactin decreased | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:severe hypernatremia in neonatal period
n1=en:calcinuria | n2=en:severe hypernatremia in neonatal period | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:shortened telomeres (classic feature, nola3 patient)
n1=en:calcinuria | n2=en:shortened telomeres (classic feature, nola3 patient) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v
n1=en:calcinuria | n2=en:skeletal muscle shows decreased activities of mitochondrial respiratory complexes i, iii, iv, and v | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:subtelomeric deletion of chromosome 16p
n1=en:calcinuria | n2=en:subtelomeric deletion of chromosome 16p | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:subtelomeric deletion of long arm of chromosome 3 (3q29)
n1=en:calcinuria | n2=en:subtelomeric deletion of long arm of chromosome 3 (3q29) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:tenascin x deficiency (serum and fibroblasts)
n1=en:calcinuria | n2=en:tenascin x deficiency (serum and fibroblasts) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:thrombocytopenia
n1=en:calcinuria | n2=en:thrombocytopenia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:thrombocytopenia (33-120 x 10(9)/l)
n1=en:calcinuria | n2=en:thrombocytopenia (33-120 x 10(9)/l) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:thrombocytosis (in some patients)
n1=en:calcinuria | n2=en:thrombocytosis (in some patients) | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine
n1=en:calcinuria | n2=en:transient hyperphenylalaninemia occurs on oral loading test with phenylalanine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:variable hypoglycemia
n1=en:calcinuria | n2=en:variable hypoglycemia | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:variably increased serum creatine kinase
n1=en:calcinuria | n2=en:variably increased serum creatine kinase | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:very low iga
n1=en:calcinuria | n2=en:very low iga | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
en:vitamin d deficiency
n1=en:calcinuria | n2=en:vitamin d deficiency | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
excrétion
n1=en:calcinuria | n2=excrétion | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
médecine
n1=en:calcinuria | n2=médecine | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 25 / 0.833 ->
pathologie
n1=en:calcinuria | n2=pathologie | rel=r_associated | relid=0 | w=25
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:'cloudy' or 'pink' blood (lipemia)
n1=en:calcinuria | n2=en:'cloudy' or 'pink' blood (lipemia) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:'rectilinear profiles' ultrastructurally in cells
n1=en:calcinuria | n2=en:'rectilinear profiles' ultrastructurally in cells | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:2-aminoadipic aciduria
n1=en:calcinuria | n2=en:2-aminoadipic aciduria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:4-hydroxyphenylactic aciduria
n1=en:calcinuria | n2=en:4-hydroxyphenylactic aciduria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:5-oxoprolinase deficiency
n1=en:calcinuria | n2=en:5-oxoprolinase deficiency | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)
n1=en:calcinuria | n2=en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal isoelectric focusing of serum transferrin (type 1 pattern)
n1=en:calcinuria | n2=en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal myelination in sural nerve biopsies
n1=en:calcinuria | n2=en:abnormal myelination in sural nerve biopsies | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal secretin test
n1=en:calcinuria | n2=en:abnormal secretin test | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal serum lipoprotein levels (in 3 of 10 patients)
n1=en:calcinuria | n2=en:abnormal serum lipoprotein levels (in 3 of 10 patients) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal transaminases (1 patient)
n1=en:calcinuria | n2=en:abnormal transaminases (1 patient) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:abnormal transferrin isoelectric focusing (ief)
n1=en:calcinuria | n2=en:abnormal transferrin isoelectric focusing (ief) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:alkaline phosphatase normal
n1=en:calcinuria | n2=en:alkaline phosphatase normal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:aminoaciduria, intermittent
n1=en:calcinuria | n2=en:aminoaciduria, intermittent | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme)
n1=en:calcinuria | n2=en:amylo(1,4 - 1,6) transglucosidase deficiency (brancher enzyme) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat
n1=en:calcinuria | n2=en:balanced translocation carrier 46,xy,+(11:18)(p13:q21)mat | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:ballooned neurons
n1=en:calcinuria | n2=en:ballooned neurons | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:biotinidase deficiency
n1=en:calcinuria | n2=en:biotinidase deficiency | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:broad tissue deposition of amylopectin-like material
n1=en:calcinuria | n2=en:broad tissue deposition of amylopectin-like material | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:bromosulfophthalein test - secondary rise at 90 minutes
n1=en:calcinuria | n2=en:bromosulfophthalein test - secondary rise at 90 minutes | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:cd4/cd8 ratio decreased
n1=en:calcinuria | n2=en:cd4/cd8 ratio decreased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:chromosomal rearrangement
n1=en:calcinuria | n2=en:chromosomal rearrangement | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:chromosome inversion - inv2(p12q14) in 2 patients
n1=en:calcinuria | n2=en:chromosome inversion - inv2(p12q14) in 2 patients | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:cilia show nonflexible and hyperkinetic beating of axonemes
n1=en:calcinuria | n2=en:cilia show nonflexible and hyperkinetic beating of axonemes | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:complex organic aciduria
n1=en:calcinuria | n2=en:complex organic aciduria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:cutaneous anergy
n1=en:calcinuria | n2=en:cutaneous anergy | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter))
n1=en:calcinuria | n2=en:cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter)) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:cytosolic phosphoenolpyruvate carboxykinase deficiency
n1=en:calcinuria | n2=en:cytosolic phosphoenolpyruvate carboxykinase deficiency | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf
n1=en:calcinuria | n2=en:decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased acid sphingomyelinase activity
n1=en:calcinuria | n2=en:decreased acid sphingomyelinase activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase
n1=en:calcinuria | n2=en:decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased agt activity
n1=en:calcinuria | n2=en:decreased agt activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased axonal flare response after intradermal histamine injection
n1=en:calcinuria | n2=en:decreased axonal flare response after intradermal histamine injection | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased beta-thromboglobulin
n1=en:calcinuria | n2=en:decreased beta-thromboglobulin | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased blood levels of cationic amino acids
n1=en:calcinuria | n2=en:decreased blood levels of cationic amino acids | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased csf folate
n1=en:calcinuria | n2=en:decreased csf folate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased csf methyltetrahydrofolate (mthf)
n1=en:calcinuria | n2=en:decreased csf methyltetrahydrofolate (mthf) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased fibrinogen (in some patients)
n1=en:calcinuria | n2=en:decreased fibrinogen (in some patients) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased fibroblast beta-hexosaminidase
n1=en:calcinuria | n2=en:decreased fibroblast beta-hexosaminidase | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased galactokinase activity
n1=en:calcinuria | n2=en:decreased galactokinase activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased lecithin:cholesterol acyltransferase mass and activity
n1=en:calcinuria | n2=en:decreased lecithin:cholesterol acyltransferase mass and activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased levels of certain coagulation factors
n1=en:calcinuria | n2=en:decreased levels of certain coagulation factors | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased levels of plasma vwf antigen
n1=en:calcinuria | n2=en:decreased levels of plasma vwf antigen | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)
n1=en:calcinuria | n2=en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased mitochondrial complex iii activity in muscle
n1=en:calcinuria | n2=en:decreased mitochondrial complex iii activity in muscle | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased or normal serum factor i
n1=en:calcinuria | n2=en:decreased or normal serum factor i | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased peroxisomal fatty acid beta-oxidation
n1=en:calcinuria | n2=en:decreased peroxisomal fatty acid beta-oxidation | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased plasma arginine
n1=en:calcinuria | n2=en:decreased plasma arginine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased serum cobalamin
n1=en:calcinuria | n2=en:decreased serum cobalamin | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased serum factor b (atypical hus)
n1=en:calcinuria | n2=en:decreased serum factor b (atypical hus) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased serum free thyroxine
n1=en:calcinuria | n2=en:decreased serum free thyroxine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased serum glucosyltransferase (ggt) activity
n1=en:calcinuria | n2=en:decreased serum glucosyltransferase (ggt) activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased serum thyroxine (t4)
n1=en:calcinuria | n2=en:decreased serum thyroxine (t4) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased t cells
n1=en:calcinuria | n2=en:decreased t cells | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:decreased udp-glcnac
n1=en:calcinuria | n2=en:decreased udp-glcnac | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:defective mitochondrial respiratory enzyme activity
n1=en:calcinuria | n2=en:defective mitochondrial respiratory enzyme activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:deficiency or absence of p67-phox protein (type ii)
n1=en:calcinuria | n2=en:deficiency or absence of p67-phox protein (type ii) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:dhea sulfotransferase below limit of detection
n1=en:calcinuria | n2=en:dhea sulfotransferase below limit of detection | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:direct coombs test negative
n1=en:calcinuria | n2=en:direct coombs test negative | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:disproportionate work-related increase in blood lactate and pyruvate
n1=en:calcinuria | n2=en:disproportionate work-related increase in blood lactate and pyruvate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished
n1=en:calcinuria | n2=en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated 3-methylcitric acid
n1=en:calcinuria | n2=en:elevated 3-methylcitric acid | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated 8-dehydrocholesterol
n1=en:calcinuria | n2=en:elevated 8-dehydrocholesterol | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated afp (endodermal sinus tumor)
n1=en:calcinuria | n2=en:elevated afp (endodermal sinus tumor) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated androstenedione
n1=en:calcinuria | n2=en:elevated androstenedione | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated circulating parathyroid hormone (pth) level
n1=en:calcinuria | n2=en:elevated circulating parathyroid hormone (pth) level | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)
n1=en:calcinuria | n2=en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated free carnitine
n1=en:calcinuria | n2=en:elevated free carnitine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated gamma-glutamyltransferase (ggt)
n1=en:calcinuria | n2=en:elevated gamma-glutamyltransferase (ggt) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated inflammatory markers
n1=en:calcinuria | n2=en:elevated inflammatory markers | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated plasma galactose (galactosemia)
n1=en:calcinuria | n2=en:elevated plasma galactose (galactosemia) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated plasma levels of lp(a)
n1=en:calcinuria | n2=en:elevated plasma levels of lp(a) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated propionate
n1=en:calcinuria | n2=en:elevated propionate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated serum angiotensin-converting enzyme (ace)
n1=en:calcinuria | n2=en:elevated serum angiotensin-converting enzyme (ace) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated serum levels of luteinizing hormone (lh)
n1=en:calcinuria | n2=en:elevated serum levels of luteinizing hormone (lh) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated serum n,n-dimethylglycine (dmg)
n1=en:calcinuria | n2=en:elevated serum n,n-dimethylglycine (dmg) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated sweat chloride
n1=en:calcinuria | n2=en:elevated sweat chloride | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated urinary 3-methylglutaconate
n1=en:calcinuria | n2=en:elevated urinary 3-methylglutaconate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated urinary and csf ribitol and d-arabitol
n1=en:calcinuria | n2=en:elevated urinary and csf ribitol and d-arabitol | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated urinary epinephrine
n1=en:calcinuria | n2=en:elevated urinary epinephrine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:elevated urinary ornithine, lysine, arginine
n1=en:calcinuria | n2=en:elevated urinary ornithine, lysine, arginine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:eosinophilia
n1=en:calcinuria | n2=en:eosinophilia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip)
n1=en:calcinuria | n2=en:erythrocyte porphobilinogen (pbg) deaminase deficiency (exception: type ii aip) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material
n1=en:calcinuria | n2=en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:glucosidase i deficiency in liver and fibroblasts
n1=en:calcinuria | n2=en:glucosidase i deficiency in liver and fibroblasts | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:glycogen storage disease type vi
n1=en:calcinuria | n2=en:glycogen storage disease type vi | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:glycosuria (less common)
n1=en:calcinuria | n2=en:glycosuria (less common) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:gm2-ganglioside accumulation
n1=en:calcinuria | n2=en:gm2-ganglioside accumulation | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hepatic argininosuccinase deficiency
n1=en:calcinuria | n2=en:hepatic argininosuccinase deficiency | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hepatic argininosuccinate synthetase deficiency
n1=en:calcinuria | n2=en:hepatic argininosuccinate synthetase deficiency | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:high serum osmolality
n1=en:calcinuria | n2=en:high serum osmolality | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:high sister chromatid exchange (sce) rate
n1=en:calcinuria | n2=en:high sister chromatid exchange (sce) rate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:high urinary copper
n1=en:calcinuria | n2=en:high urinary copper | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia
n1=en:calcinuria | n2=en:high-resolution electron microscopy tomography shows absence of projection c2b at the central pair (cp) apparatus of cilia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:homocysteinemia
n1=en:calcinuria | n2=en:homocysteinemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:homozygous 122kb deletion 11p15-p14
n1=en:calcinuria | n2=en:homozygous 122kb deletion 11p15-p14 | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hyperchloremia (mean 109 mm)
n1=en:calcinuria | n2=en:hyperchloremia (mean 109 mm) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hyperchloremia (mean 114 mm)
n1=en:calcinuria | n2=en:hyperchloremia (mean 114 mm) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hyperlysinemia
n1=en:calcinuria | n2=en:hyperlysinemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hypermagnesiuria
n1=en:calcinuria | n2=en:hypermagnesiuria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hyperornithinemia
n1=en:calcinuria | n2=en:hyperornithinemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hyperphenylalaninemia
n1=en:calcinuria | n2=en:hyperphenylalaninemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hypoalphalipoproteinemia
n1=en:calcinuria | n2=en:hypoalphalipoproteinemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hypogammaglobulinemia
n1=en:calcinuria | n2=en:hypogammaglobulinemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hyponatremia in infancy
n1=en:calcinuria | n2=en:hyponatremia in infancy | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:hypoproteinemia due to hypercatabolism
n1=en:calcinuria | n2=en:hypoproteinemia due to hypercatabolism | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:immotile or weakly motile cilia
n1=en:calcinuria | n2=en:immotile or weakly motile cilia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:impaired oxidation of pyruvate
n1=en:calcinuria | n2=en:impaired oxidation of pyruvate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides
n1=en:calcinuria | n2=en:inclusions contain phospholipids, phosphatidylcholine, sphingolipids, gangliosides, mucopolysaccharides | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased biopterin in urine and csf
n1=en:calcinuria | n2=en:increased biopterin in urine and csf | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased chromosomal rearrangements (bone marrow and fibroblast culture)
n1=en:calcinuria | n2=en:increased chromosomal rearrangements (bone marrow and fibroblast culture) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased csf glycine
n1=en:calcinuria | n2=en:increased csf glycine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased csf histidine
n1=en:calcinuria | n2=en:increased csf histidine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased csf lactate
n1=en:calcinuria | n2=en:increased csf lactate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased csf taurine
n1=en:calcinuria | n2=en:increased csf taurine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased d-glyceric acid in serum, urine, and csf
n1=en:calcinuria | n2=en:increased d-glyceric acid in serum, urine, and csf | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased excretion of urobilinogen
n1=en:calcinuria | n2=en:increased excretion of urobilinogen | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased fas ligand
n1=en:calcinuria | n2=en:increased fas ligand | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased il-6
n1=en:calcinuria | n2=en:increased il-6 | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased interferon-alpha signal
n1=en:calcinuria | n2=en:increased interferon-alpha signal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased ketone body or lactate/pyruvate plasma ratios
n1=en:calcinuria | n2=en:increased ketone body or lactate/pyruvate plasma ratios | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood
n1=en:calcinuria | n2=en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased neopterin in urine and csf
n1=en:calcinuria | n2=en:increased neopterin in urine and csf | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased osmotic fragility
n1=en:calcinuria | n2=en:increased osmotic fragility | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased plasma lactate
n1=en:calcinuria | n2=en:increased plasma lactate | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased plasma levels of bile acid intermediates
n1=en:calcinuria | n2=en:increased plasma levels of bile acid intermediates | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased plasma phospholipids
n1=en:calcinuria | n2=en:increased plasma phospholipids | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum 1,25-dihydroxyvitamin d
n1=en:calcinuria | n2=en:increased serum 1,25-dihydroxyvitamin d | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum acylcarnitines
n1=en:calcinuria | n2=en:increased serum acylcarnitines | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum arylsulfatase a (10-20x)
n1=en:calcinuria | n2=en:increased serum arylsulfatase a (10-20x) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum beta-hexosaminidase
n1=en:calcinuria | n2=en:increased serum beta-hexosaminidase | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum plasminogen activator inhibitor-1 (pai1, 173360)
n1=en:calcinuria | n2=en:increased serum plasminogen activator inhibitor-1 (pai1, 173360) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum thrombopoietin may occur
n1=en:calcinuria | n2=en:increased serum thrombopoietin may occur | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum thymidine
n1=en:calcinuria | n2=en:increased serum thymidine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased serum, urinary, and csf lysine
n1=en:calcinuria | n2=en:increased serum, urinary, and csf lysine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased thymine and dihydrothymine in bodily fluids
n1=en:calcinuria | n2=en:increased thymine and dihydrothymine in bodily fluids | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased thyroid-stimulating hormone (tsh)
n1=en:calcinuria | n2=en:increased thyroid-stimulating hormone (tsh) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs
n1=en:calcinuria | n2=en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased uric acid level
n1=en:calcinuria | n2=en:increased uric acid level | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary 2-oxoglutaric acid
n1=en:calcinuria | n2=en:increased urinary 2-oxoglutaric acid | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation
n1=en:calcinuria | n2=en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary cortisol/cortisone ratio
n1=en:calcinuria | n2=en:increased urinary cortisol/cortisone ratio | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary dihydropyrimidines
n1=en:calcinuria | n2=en:increased urinary dihydropyrimidines | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts
n1=en:calcinuria | n2=en:increased urinary free sialic acid excretion (n-acetylneuraminic acid, 5-20x normal) enlarged lysosomal vacuoles in lymphocytes and fibroblasts | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary ketones
n1=en:calcinuria | n2=en:increased urinary ketones | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary neopterin
n1=en:calcinuria | n2=en:increased urinary neopterin | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary organic acids (in some patients)
n1=en:calcinuria | n2=en:increased urinary organic acids (in some patients) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary prostaglandin e2
n1=en:calcinuria | n2=en:increased urinary prostaglandin e2 | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urinary sialylglycopeptides
n1=en:calcinuria | n2=en:increased urinary sialylglycopeptides | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urine oligosaccharides
n1=en:calcinuria | n2=en:increased urine oligosaccharides | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased urine vanillactic acid (vla)
n1=en:calcinuria | n2=en:increased urine vanillactic acid (vla) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:increased vitamin e (alpha-tocopherol) levels
n1=en:calcinuria | n2=en:increased vitamin e (alpha-tocopherol) levels | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:intracellular granular material on ultrastructural analysis
n1=en:calcinuria | n2=en:intracellular granular material on ultrastructural analysis | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:iodine depletion
n1=en:calcinuria | n2=en:iodine depletion | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:isovalericaciduria
n1=en:calcinuria | n2=en:isovalericaciduria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:ketonemia
n1=en:calcinuria | n2=en:ketonemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:lacunar halos around chondrocytes in skeletal cartilage
n1=en:calcinuria | n2=en:lacunar halos around chondrocytes in skeletal cartilage | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:liver enzymes abnormal
n1=en:calcinuria | n2=en:liver enzymes abnormal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:low or absent adrenocorticotropic hormone (acth)
n1=en:calcinuria | n2=en:low or absent adrenocorticotropic hormone (acth) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:low or absent luteinizing hormone (lh)
n1=en:calcinuria | n2=en:low or absent luteinizing hormone (lh) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:low to normal serum calcium
n1=en:calcinuria | n2=en:low to normal serum calcium | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:low-molecular-weight proteinuria
n1=en:calcinuria | n2=en:low-molecular-weight proteinuria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:markedly reduced igg levels
n1=en:calcinuria | n2=en:markedly reduced igg levels | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:median mean platelet volume 13fl
n1=en:calcinuria | n2=en:median mean platelet volume 13fl | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:methemoglobin concentration 12 to 19%
n1=en:calcinuria | n2=en:methemoglobin concentration 12 to 19% | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:methemoglobinemia
n1=en:calcinuria | n2=en:methemoglobinemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:methylglutaconic aciduria, mild
n1=en:calcinuria | n2=en:methylglutaconic aciduria, mild | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:methylmalonic acidemia
n1=en:calcinuria | n2=en:methylmalonic acidemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:mild hypertriglyceridemia
n1=en:calcinuria | n2=en:mild hypertriglyceridemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:mildly increased serum creatine kinase (in some patients)
n1=en:calcinuria | n2=en:mildly increased serum creatine kinase (in some patients) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:mitochondrial complex i deficiency in muscle
n1=en:calcinuria | n2=en:mitochondrial complex i deficiency in muscle | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip)
n1=en:calcinuria | n2=en:mononuclear cell noncaseating granulomatous inflammation on biopsy (lung, skin, lip) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:myoglobinuria, particularly after physical exertion (25% of patients)
n1=en:calcinuria | n2=en:myoglobinuria, particularly after physical exertion (25% of patients) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:myopathy with type i fiber atrophy on muscle biopsy
n1=en:calcinuria | n2=en:myopathy with type i fiber atrophy on muscle biopsy | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:neonatal hypocalcemia
n1=en:calcinuria | n2=en:neonatal hypocalcemia | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal activity of von willebrand factor-cleaving protease
n1=en:calcinuria | n2=en:normal activity of von willebrand factor-cleaving protease | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal apoa-ii levels in homozygotes
n1=en:calcinuria | n2=en:normal apoa-ii levels in homozygotes | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal b12
n1=en:calcinuria | n2=en:normal b12 | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal free urinary cortisol
n1=en:calcinuria | n2=en:normal free urinary cortisol | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal platelet aggregation response to arachidonic acid (aa)
n1=en:calcinuria | n2=en:normal platelet aggregation response to arachidonic acid (aa) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin
n1=en:calcinuria | n2=en:normal platelet aggregation response to arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin
n1=en:calcinuria | n2=en:normal platelet aggregation response to epinephrine, adp, collagen, and ristocetin | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal prolyl 4-hydroxylase activity
n1=en:calcinuria | n2=en:normal prolyl 4-hydroxylase activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal serum liver enzymes
n1=en:calcinuria | n2=en:normal serum liver enzymes | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:normal to slightly high alkaline phosphatase
n1=en:calcinuria | n2=en:normal to slightly high alkaline phosphatase | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate)
n1=en:calcinuria | n2=en:organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:orotic acid crystalluria
n1=en:calcinuria | n2=en:orotic acid crystalluria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:osteocalcin increased
n1=en:calcinuria | n2=en:osteocalcin increased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:parathyroid hormone normal
n1=en:calcinuria | n2=en:parathyroid hormone normal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:partial deficiency of factor xiii (less common)
n1=en:calcinuria | n2=en:partial deficiency of factor xiii (less common) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:patient cells show defective dna repair in response to irradiation and free radical damage
n1=en:calcinuria | n2=en:patient cells show defective dna repair in response to irradiation and free radical damage | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner)
n1=en:calcinuria | n2=en:patient cells show defective transcription-coupled and global genome nucleotide excision repair (ner) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:patients with factor xiii beta subunit deficiency usually also have decreased levels of plasma factor xiii alpha subunit
n1=en:calcinuria | n2=en:patients with factor xiii beta subunit deficiency usually also have decreased levels of plasma factor xiii alpha subunit | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:phosphaturia may disappear after a long period of time
n1=en:calcinuria | n2=en:phosphaturia may disappear after a long period of time | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:pipecolic acid accumulation.
n1=en:calcinuria | n2=en:pipecolic acid accumulation. | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:platelet aggregation decreased
n1=en:calcinuria | n2=en:platelet aggregation decreased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:pms show deficient oxidation of debrisoquine
n1=en:calcinuria | n2=en:pms show deficient oxidation of debrisoquine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:postprandial hyperglycemia (early in disease course)
n1=en:calcinuria | n2=en:postprandial hyperglycemia (early in disease course) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase
n1=en:calcinuria | n2=en:premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:prolonged activated partial thromboplastin time (aptt)
n1=en:calcinuria | n2=en:prolonged activated partial thromboplastin time (aptt) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:proteinuria
n1=en:calcinuria | n2=en:proteinuria | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:pt normal
n1=en:calcinuria | n2=en:pt normal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:reduced total and free carnitine in plasma and tissue
n1=en:calcinuria | n2=en:reduced total and free carnitine in plasma and tissue | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:relatively low urinary pge-m levels
n1=en:calcinuria | n2=en:relatively low urinary pge-m levels | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:resistance to activated protein c due to factor v leiden
n1=en:calcinuria | n2=en:resistance to activated protein c due to factor v leiden | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:respiratory cilia and sperm flagella show reduced coordination of beating activity
n1=en:calcinuria | n2=en:respiratory cilia and sperm flagella show reduced coordination of beating activity | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:secondary decrease of plasma free carnitine
n1=en:calcinuria | n2=en:secondary decrease of plasma free carnitine | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum acid phosphatase normal
n1=en:calcinuria | n2=en:serum acid phosphatase normal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum calcium normal
n1=en:calcinuria | n2=en:serum calcium normal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum creatine kinase may be normal or elevated
n1=en:calcinuria | n2=en:serum creatine kinase may be normal or elevated | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum creatine kinase may be normal or increased
n1=en:calcinuria | n2=en:serum creatine kinase may be normal or increased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum creatinine raised
n1=en:calcinuria | n2=en:serum creatinine raised | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum mitochondrial autoantibodies
n1=en:calcinuria | n2=en:serum mitochondrial autoantibodies | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:serum triglycerides normal
n1=en:calcinuria | n2=en:serum triglycerides normal | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:severely decreased palmitate oxidation
n1=en:calcinuria | n2=en:severely decreased palmitate oxidation | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions
n1=en:calcinuria | n2=en:skin fibroblasts contain cytoplasmic membrane-bound granular inclusions | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:subsarcolemmal pleomorphic mitochondria on em
n1=en:calcinuria | n2=en:subsarcolemmal pleomorphic mitochondria on em | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:thyroid hormones increased
n1=en:calcinuria | n2=en:thyroid hormones increased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:tumor may secrete vasoactive intestinal peptide (vip)
n1=en:calcinuria | n2=en:tumor may secrete vasoactive intestinal peptide (vip) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl)
n1=en:calcinuria | n2=en:two alternative chimeric oncogene products called p210(bcr-abl) and p185(bcr-abl) | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:undetectable epinephrine (adrenaline) in plasma, urine, csf
n1=en:calcinuria | n2=en:undetectable epinephrine (adrenaline) in plasma, urine, csf | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:urinary loss of potassium, sodium, calcium, and chloride
n1=en:calcinuria | n2=en:urinary loss of potassium, sodium, calcium, and chloride | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:urinary prostaglandin e
n1=en:calcinuria | n2=en:urinary prostaglandin e | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:urine cortisol, increased
n1=en:calcinuria | n2=en:urine cortisol, increased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:urine osmolarity decreased
n1=en:calcinuria | n2=en:urine osmolarity decreased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:urine uric acid decreased
n1=en:calcinuria | n2=en:urine uric acid decreased | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 24 / 0.8 ->
en:urocanase deficiency
n1=en:calcinuria | n2=en:urocanase deficiency | rel=r_associated | relid=0 | w=24
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:1.61- and 1.76-mb microduplication of 3q29
n1=en:calcinuria | n2=en:1.61- and 1.76-mb microduplication of 3q29 | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:4-hydroxyphenyllactic aciduria
n1=en:calcinuria | n2=en:4-hydroxyphenyllactic aciduria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:a small minority of patients have translocations and inversions involving 16p13.3
n1=en:calcinuria | n2=en:a small minority of patients have translocations and inversions involving 16p13.3 | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormal acylcarnitine profiles
n1=en:calcinuria | n2=en:abnormal acylcarnitine profiles | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormal cartilage collagen on em
n1=en:calcinuria | n2=en:abnormal cartilage collagen on em | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormal eeg in 25% hospitalized patients
n1=en:calcinuria | n2=en:abnormal eeg in 25% hospitalized patients | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)
n1=en:calcinuria | n2=en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormal liver enzymes (in some patients)
n1=en:calcinuria | n2=en:abnormal liver enzymes (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia
n1=en:calcinuria | n2=en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormally low cerebrospinal fluid cystatin c
n1=en:calcinuria | n2=en:abnormally low cerebrospinal fluid cystatin c | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins
n1=en:calcinuria | n2=en:abnormally triglyceride-rich low and high density lipoproteins and beta-migrating very low density lipoproteins | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:absence of outer dynein arms
n1=en:calcinuria | n2=en:absence of outer dynein arms | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees
n1=en:calcinuria | n2=en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:absent or severely reduced levels of serum immunoglobulins
n1=en:calcinuria | n2=en:absent or severely reduced levels of serum immunoglobulins | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:absent/reduced protein s and normal total proteins in heterozygote
n1=en:calcinuria | n2=en:absent/reduced protein s and normal total proteins in heterozygote | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:accumulation of guanidinoacetate in brain
n1=en:calcinuria | n2=en:accumulation of guanidinoacetate in brain | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:alpha 1 foetoprotein amniotic fluid increased
n1=en:calcinuria | n2=en:alpha 1 foetoprotein amniotic fluid increased | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:aminoaciduria
n1=en:calcinuria | n2=en:aminoaciduria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:arylsulfatase b deficiency in fibroblasts and white blood cells
n1=en:calcinuria | n2=en:arylsulfatase b deficiency in fibroblasts and white blood cells | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:bilirubin may or may not be increased
n1=en:calcinuria | n2=en:bilirubin may or may not be increased | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:bleeding time normal
n1=en:calcinuria | n2=en:bleeding time normal | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:carnitine palmitoyltransferase ii deficiency (25% of controls)
n1=en:calcinuria | n2=en:carnitine palmitoyltransferase ii deficiency (25% of controls) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation
n1=en:calcinuria | n2=en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:cerebrospinal fluid lymphocytosis
n1=en:calcinuria | n2=en:cerebrospinal fluid lymphocytosis | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:chromosomal mosaicism in cultured cells
n1=en:calcinuria | n2=en:chromosomal mosaicism in cultured cells | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus
n1=en:calcinuria | n2=en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin kappa light chain (147200, 2p12) locus | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)
n1=en:calcinuria | n2=en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:chylomicronemia, refractory fasting
n1=en:calcinuria | n2=en:chylomicronemia, refractory fasting | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:coombs positive hemolytic anemia
n1=en:calcinuria | n2=en:coombs positive hemolytic anemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:cortisol does not decrease on dexamethasone suppression test
n1=en:calcinuria | n2=en:cortisol does not decrease on dexamethasone suppression test | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:csf pleocytosis, particularly of lymphocytes
n1=en:calcinuria | n2=en:csf pleocytosis, particularly of lymphocytes | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased acid beta galactosidase protein and activity
n1=en:calcinuria | n2=en:decreased acid beta galactosidase protein and activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex
n1=en:calcinuria | n2=en:decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased activity of coenzyme q10-dependent respiratory chain complexes
n1=en:calcinuria | n2=en:decreased activity of coenzyme q10-dependent respiratory chain complexes | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased activity of cytochrome c oxidase in muscle and fibroblasts
n1=en:calcinuria | n2=en:decreased activity of cytochrome c oxidase in muscle and fibroblasts | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v
n1=en:calcinuria | n2=en:decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased activity of thiopurine s-methyltransferase
n1=en:calcinuria | n2=en:decreased activity of thiopurine s-methyltransferase | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased carnitine palmitoyltransferase ii (cpt2) activity
n1=en:calcinuria | n2=en:decreased carnitine palmitoyltransferase ii (cpt2) activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased circulating aldosterone level
n1=en:calcinuria | n2=en:decreased circulating aldosterone level | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased circulating cortisol level
n1=en:calcinuria | n2=en:decreased circulating cortisol level | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased coq10 levels in lymphoblasts or fibroblasts
n1=en:calcinuria | n2=en:decreased coq10 levels in lymphoblasts or fibroblasts | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg)
n1=en:calcinuria | n2=en:decreased erythrocyte 2,3-diphosphoglycerate (2,3-dpg) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased expression of gpi-anchored proteins on blood cells
n1=en:calcinuria | n2=en:decreased expression of gpi-anchored proteins on blood cells | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased fibrillin-1 immunostaining in the dermis
n1=en:calcinuria | n2=en:decreased fibrillin-1 immunostaining in the dermis | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased glutamine in bodily fluids
n1=en:calcinuria | n2=en:decreased glutamine in bodily fluids | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf
n1=en:calcinuria | n2=en:decreased homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5hiaa) in csf | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased ldl cholesterol
n1=en:calcinuria | n2=en:decreased ldl cholesterol | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes
n1=en:calcinuria | n2=en:decreased lysosomal alpha-mannosidase activity in plasma and leukocytes | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased metabolism of thiopurine drugs
n1=en:calcinuria | n2=en:decreased metabolism of thiopurine drugs | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased methylmalonyl-coa mutase activity
n1=en:calcinuria | n2=en:decreased methylmalonyl-coa mutase activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased neopterin and biopterin in urine
n1=en:calcinuria | n2=en:decreased neopterin and biopterin in urine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased or absent ciliary motility
n1=en:calcinuria | n2=en:decreased or absent ciliary motility | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased or absent histidase activity
n1=en:calcinuria | n2=en:decreased or absent histidase activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased or absent pts activity
n1=en:calcinuria | n2=en:decreased or absent pts activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased palmitate oxidation
n1=en:calcinuria | n2=en:decreased palmitate oxidation | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased phgdh activity (fibroblasts)
n1=en:calcinuria | n2=en:decreased phgdh activity (fibroblasts) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased renal calcium excretion
n1=en:calcinuria | n2=en:decreased renal calcium excretion | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased serum ceruloplasmin
n1=en:calcinuria | n2=en:decreased serum ceruloplasmin | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased serum factor i (atypical hus)
n1=en:calcinuria | n2=en:decreased serum factor i (atypical hus) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased serum iron (in some patients)
n1=en:calcinuria | n2=en:decreased serum iron (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased serum rt3
n1=en:calcinuria | n2=en:decreased serum rt3 | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased serum thiamine pyrophosphate
n1=en:calcinuria | n2=en:decreased serum thiamine pyrophosphate | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased serum trypsinogen
n1=en:calcinuria | n2=en:decreased serum trypsinogen | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased telomerase activity
n1=en:calcinuria | n2=en:decreased telomerase activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:decreased urocanic acid in blood, urine, and skin cells
n1=en:calcinuria | n2=en:decreased urocanic acid in blood, urine, and skin cells | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:defective t-cell proliferative responses (in some patients)
n1=en:calcinuria | n2=en:defective t-cell proliferative responses (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:defects in mitochondrial oxidative phosphorylation
n1=en:calcinuria | n2=en:defects in mitochondrial oxidative phosphorylation | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:deficiency of laminin alpha-2 chain of merosin (lama2, 156225) in muscle
n1=en:calcinuria | n2=en:deficiency of laminin alpha-2 chain of merosin (lama2, 156225) in muscle | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts
n1=en:calcinuria | n2=en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts
n1=en:calcinuria | n2=en:deficiency of phosphatidylinositol (4,5) bisphosphate 5-phosphatase (ptdins(4,5)p(2) 5-phosphatase) in cultured fibroblasts | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine
n1=en:calcinuria | n2=en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:diagnosis by exposing muscle biopsy to caffeine and/or halothane
n1=en:calcinuria | n2=en:diagnosis by exposing muscle biopsy to caffeine and/or halothane | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:dicarboxylic aciduria
n1=en:calcinuria | n2=en:dicarboxylic aciduria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:diffuse deposition of calcium oxalate in various tissues
n1=en:calcinuria | n2=en:diffuse deposition of calcium oxalate in various tissues | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination
n1=en:calcinuria | n2=en:disturbed visual and brainstem auditory evoked responses indicative of cns demyelination | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated acth
n1=en:calcinuria | n2=en:elevated acth | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated androstenedione and testosterone
n1=en:calcinuria | n2=en:elevated androstenedione and testosterone | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated blood spot hydroxybutyryl carnitine
n1=en:calcinuria | n2=en:elevated blood spot hydroxybutyryl carnitine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated erythrocyte sedimentation rate (esr)
n1=en:calcinuria | n2=en:elevated erythrocyte sedimentation rate (esr) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated fibroblast free sialic acid
n1=en:calcinuria | n2=en:elevated fibroblast free sialic acid | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated gamma-glutamyltransferase
n1=en:calcinuria | n2=en:elevated gamma-glutamyltransferase | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated gastrin concentration
n1=en:calcinuria | n2=en:elevated gastrin concentration | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated hcg (choriocarcinoma)
n1=en:calcinuria | n2=en:elevated hcg (choriocarcinoma) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated leukotriene e(4)
n1=en:calcinuria | n2=en:elevated leukotriene e(4) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated long-chain acylcarnitine species (in some patients)
n1=en:calcinuria | n2=en:elevated long-chain acylcarnitine species (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated mchc
n1=en:calcinuria | n2=en:elevated mchc | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated plasma desmosterol
n1=en:calcinuria | n2=en:elevated plasma desmosterol | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated progesterone
n1=en:calcinuria | n2=en:elevated progesterone | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated serum levels of adenosine
n1=en:calcinuria | n2=en:elevated serum levels of adenosine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated serum parathyroid hormone (pth)
n1=en:calcinuria | n2=en:elevated serum parathyroid hormone (pth) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside)
n1=en:calcinuria | n2=en:elevated urinary and csf 5-amino-4-imidazolecarboxyamide (aica-riboside) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:elevated urinary pyridinoline and deoxypyridinoline
n1=en:calcinuria | n2=en:elevated urinary pyridinoline and deoxypyridinoline | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency
n1=en:calcinuria | n2=en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:exercise-induced myoglobinuria in adults
n1=en:calcinuria | n2=en:exercise-induced myoglobinuria in adults | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:fasting hypoglycemia (early in disease course)
n1=en:calcinuria | n2=en:fasting hypoglycemia (early in disease course) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts
n1=en:calcinuria | n2=en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:frequent deletions of chromosome 9 in melanoma
n1=en:calcinuria | n2=en:frequent deletions of chromosome 9 in melanoma | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:generalized aminoaciduria
n1=en:calcinuria | n2=en:generalized aminoaciduria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:granular osmiophilic deposits (grod) in cells
n1=en:calcinuria | n2=en:granular osmiophilic deposits (grod) in cells | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally
n1=en:calcinuria | n2=en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hemizygous deletion at 4p16.3
n1=en:calcinuria | n2=en:hemizygous deletion at 4p16.3 | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:histiocytic infiltration of liver, spleen, and lungs
n1=en:calcinuria | n2=en:histiocytic infiltration of liver, spleen, and lungs | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:homocystinuria (in some patients)
n1=en:calcinuria | n2=en:homocystinuria (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hyperammonemia, episodic
n1=en:calcinuria | n2=en:hyperammonemia, episodic | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypercalcemia
n1=en:calcinuria | n2=en:hypercalcemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypercholesterolemia (in 75%)
n1=en:calcinuria | n2=en:hypercholesterolemia (in 75%) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes
n1=en:calcinuria | n2=en:hypercholesterolemia, 350-550 mg/l in heterozygotes, 650-1000 mg/l in homozygotes | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypergammaglobulinemia
n1=en:calcinuria | n2=en:hypergammaglobulinemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hyperoxalaemia
n1=en:calcinuria | n2=en:hyperoxalaemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hyperprolinemia (5-10 times normal)
n1=en:calcinuria | n2=en:hyperprolinemia (5-10 times normal) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hyperthreoninuria
n1=en:calcinuria | n2=en:hyperthreoninuria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypertriglyceridemia (in some patients)
n1=en:calcinuria | n2=en:hypertriglyceridemia (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypogammaglobulinemia (in some patients)
n1=en:calcinuria | n2=en:hypogammaglobulinemia (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypoglycorrhachia (low glucose in csf)
n1=en:calcinuria | n2=en:hypoglycorrhachia (low glucose in csf) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:hypokalemia
n1=en:calcinuria | n2=en:hypokalemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:immediate (type i) skin test reactivity
n1=en:calcinuria | n2=en:immediate (type i) skin test reactivity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:immunoglobulin antibodies present
n1=en:calcinuria | n2=en:immunoglobulin antibodies present | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes
n1=en:calcinuria | n2=en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria
n1=en:calcinuria | n2=en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased coproporphyrin isomer iii:i ratio (hcp, feces)
n1=en:calcinuria | n2=en:increased coproporphyrin isomer iii:i ratio (hcp, feces) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased csf and plasma gaba
n1=en:calcinuria | n2=en:increased csf and plasma gaba | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased csf homovanillic acid (hva)
n1=en:calcinuria | n2=en:increased csf homovanillic acid (hva) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased csf interferon alpha
n1=en:calcinuria | n2=en:increased csf interferon alpha | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased csf, plasma, and urinary 3-methoxytyrosine
n1=en:calcinuria | n2=en:increased csf, plasma, and urinary 3-methoxytyrosine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased disialotransferrin and asialotransferrin levels
n1=en:calcinuria | n2=en:increased disialotransferrin and asialotransferrin levels | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased erythropoietin
n1=en:calcinuria | n2=en:increased erythropoietin | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased fractional excretion of uric acid
n1=en:calcinuria | n2=en:increased fractional excretion of uric acid | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased hepatic parenchymal cell stainable iron
n1=en:calcinuria | n2=en:increased hepatic parenchymal cell stainable iron | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased iga level
n1=en:calcinuria | n2=en:increased iga level | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased plasma and urinary pipecolic acid
n1=en:calcinuria | n2=en:increased plasma and urinary pipecolic acid | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased plasma dihydroxyphenylacetic acid (dopac)
n1=en:calcinuria | n2=en:increased plasma dihydroxyphenylacetic acid (dopac) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased plasma globotriaosylsphingosine (lyso-gb3)
n1=en:calcinuria | n2=en:increased plasma globotriaosylsphingosine (lyso-gb3) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased plasma renin activity
n1=en:calcinuria | n2=en:increased plasma renin activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum and csf lactate
n1=en:calcinuria | n2=en:increased serum and csf lactate | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum bilirubin due to hemolysis
n1=en:calcinuria | n2=en:increased serum bilirubin due to hemolysis | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum butyryl carnitine
n1=en:calcinuria | n2=en:increased serum butyryl carnitine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum c-reactive protein (crp, 123260)
n1=en:calcinuria | n2=en:increased serum c-reactive protein (crp, 123260) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum creatine kinase (patient a)
n1=en:calcinuria | n2=en:increased serum creatine kinase (patient a) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum creatine kinase in patients with muscle involvement
n1=en:calcinuria | n2=en:increased serum creatine kinase in patients with muscle involvement | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum glutamine
n1=en:calcinuria | n2=en:increased serum glutamine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum lactate hydrogenase
n1=en:calcinuria | n2=en:increased serum lactate hydrogenase | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum manganese
n1=en:calcinuria | n2=en:increased serum manganese | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum prostaglandin e2
n1=en:calcinuria | n2=en:increased serum prostaglandin e2 | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum pyruvate
n1=en:calcinuria | n2=en:increased serum pyruvate | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum pyruvate in acute stage
n1=en:calcinuria | n2=en:increased serum pyruvate in acute stage | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased serum thyrotropin
n1=en:calcinuria | n2=en:increased serum thyrotropin | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased sodium-potassium pump activity
n1=en:calcinuria | n2=en:increased sodium-potassium pump activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary cross-linked n-telopetide of type i collagen
n1=en:calcinuria | n2=en:increased urinary cross-linked n-telopetide of type i collagen | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)
n1=en:calcinuria | n2=en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary excretion of cystine
n1=en:calcinuria | n2=en:increased urinary excretion of cystine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary glycosphingolipids, particularly globotriaosylceramide
n1=en:calcinuria | n2=en:increased urinary glycosphingolipids, particularly globotriaosylceramide | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary magnesium
n1=en:calcinuria | n2=en:increased urinary magnesium | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine
n1=en:calcinuria | n2=en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary sulfatides
n1=en:calcinuria | n2=en:increased urinary sulfatides | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary tiglylglycine
n1=en:calcinuria | n2=en:increased urinary tiglylglycine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:increased urinary, plasma, and csf l-2-hydroxyglutaric acid
n1=en:calcinuria | n2=en:increased urinary, plasma, and csf l-2-hydroxyglutaric acid | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:indirect hyperbilirubinemia
n1=en:calcinuria | n2=en:indirect hyperbilirubinemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri
n1=en:calcinuria | n2=en:iron deposition in basal ganglia, liver, pancreas, visceral organs detectable by ct and mri | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:iron overload (in some patients)
n1=en:calcinuria | n2=en:iron overload (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:loss of ciliary beat coordination
n1=en:calcinuria | n2=en:loss of ciliary beat coordination | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:low maximal oxygen uptake on exercise testing
n1=en:calcinuria | n2=en:low maximal oxygen uptake on exercise testing | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:low plasma hdl
n1=en:calcinuria | n2=en:low plasma hdl | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:low serum igg and iga
n1=en:calcinuria | n2=en:low serum igg and iga | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:low total serum protein
n1=en:calcinuria | n2=en:low total serum protein | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:lysine-ketoglutarate reductase deficiency
n1=en:calcinuria | n2=en:lysine-ketoglutarate reductase deficiency | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)
n1=en:calcinuria | n2=en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:medium-chain acyl-coa dehydrogenase deficiency
n1=en:calcinuria | n2=en:medium-chain acyl-coa dehydrogenase deficiency | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:metachromasia of white blood cells and fibroblasts
n1=en:calcinuria | n2=en:metachromasia of white blood cells and fibroblasts | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:methylmalonic aciduria, mild
n1=en:calcinuria | n2=en:methylmalonic aciduria, mild | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:mildly elevated acth
n1=en:calcinuria | n2=en:mildly elevated acth | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:mildly elevated blood ammonia
n1=en:calcinuria | n2=en:mildly elevated blood ammonia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%)
n1=en:calcinuria | n2=en:mitochondrial malonyl-coa decarboxylase activity in fibroblasts is very low (as low as 4%) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:monoclonal gammopathy
n1=en:calcinuria | n2=en:monoclonal gammopathy | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:myoglobinuria after exertion
n1=en:calcinuria | n2=en:myoglobinuria after exertion | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:myoglobinuria after exertion (in some patients)
n1=en:calcinuria | n2=en:myoglobinuria after exertion (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:negative nitroblue tetrazolium (nbt) reduction test
n1=en:calcinuria | n2=en:negative nitroblue tetrazolium (nbt) reduction test | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:neutral hyperaminoaciduria
n1=en:calcinuria | n2=en:neutral hyperaminoaciduria | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:no cartilage staining with toluidine blue
n1=en:calcinuria | n2=en:no cartilage staining with toluidine blue | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:no evidence of intrauterine infection in mother or newborn
n1=en:calcinuria | n2=en:no evidence of intrauterine infection in mother or newborn | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:no increase of muscle lactate with ischemic exercise testing
n1=en:calcinuria | n2=en:no increase of muscle lactate with ischemic exercise testing | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:nonketotic hypoglycemia
n1=en:calcinuria | n2=en:nonketotic hypoglycemia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal axonal flare response after intradermal histamine injection
n1=en:calcinuria | n2=en:normal axonal flare response after intradermal histamine injection | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal or decreased serum erythropoietin (epo, 133170)
n1=en:calcinuria | n2=en:normal or decreased serum erythropoietin (epo, 133170) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal or increased serum phosphate
n1=en:calcinuria | n2=en:normal or increased serum phosphate | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal plasma total homocysteine
n1=en:calcinuria | n2=en:normal plasma total homocysteine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal serum complement levels
n1=en:calcinuria | n2=en:normal serum complement levels | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal serum phytanic and pristanic acid
n1=en:calcinuria | n2=en:normal serum phytanic and pristanic acid | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal sweat electrolytes
n1=en:calcinuria | n2=en:normal sweat electrolytes | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal to slightly elevated plasma cholesterol
n1=en:calcinuria | n2=en:normal to slightly elevated plasma cholesterol | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside)
n1=en:calcinuria | n2=en:normal-to-slightly decreased glcnac phosphotransferase using artificial substrate (e.g., alpha-methylmannoside) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:often integrated hbv sequences in hepatocellular carcinomas
n1=en:calcinuria | n2=en:often integrated hbv sequences in hepatocellular carcinomas | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine)
n1=en:calcinuria | n2=en:organic aciduria (elevated beta-hydroxyisovalerate, beta-methylcrotonylglycine, beta-hydroxypropionate, methylcitrate, lactate, tiglylglycine) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:patient cells have increased levels of lmnb1 mrna and protein
n1=en:calcinuria | n2=en:patient cells have increased levels of lmnb1 mrna and protein | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:patient cells show abnormal mitochondrial morphology
n1=en:calcinuria | n2=en:patient cells show abnormal mitochondrial morphology | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres
n1=en:calcinuria | n2=en:pcd shows separate and rod-shaped x chromosomes without discernible centromeres | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:pcs shows separate and splayed chromatids with discernible centromeres
n1=en:calcinuria | n2=en:pcs shows separate and splayed chromatids with discernible centromeres | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:peroxisome deficiency
n1=en:calcinuria | n2=en:peroxisome deficiency | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:prolidase deficiency
n1=en:calcinuria | n2=en:prolidase deficiency | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:proteinuria in those with cystic kidneys
n1=en:calcinuria | n2=en:proteinuria in those with cystic kidneys | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:rare occurrences of 9+0 or 8+1 cilia
n1=en:calcinuria | n2=en:rare occurrences of 9+0 or 8+1 cilia | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material
n1=en:calcinuria | n2=en:rectilinear intracellular accumulation of autofluorescent lipopigment storage material | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:reduced cytosolic superoxide dismutase-1 (sod1)
n1=en:calcinuria | n2=en:reduced cytosolic superoxide dismutase-1 (sod1) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:reduced erythrocyte purine nucleoside phosphorylase activity
n1=en:calcinuria | n2=en:reduced erythrocyte purine nucleoside phosphorylase activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:reduced oxygen affinity (e.g. hb thionville 141800.0168)
n1=en:calcinuria | n2=en:reduced oxygen affinity (e.g. hb thionville 141800.0168) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:rhabdomyolysis in response to alcohol
n1=en:calcinuria | n2=en:rhabdomyolysis in response to alcohol | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:serum ammonia increased
n1=en:calcinuria | n2=en:serum ammonia increased | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:serum phosphate normal
n1=en:calcinuria | n2=en:serum phosphate normal | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:serum testosterone decreased
n1=en:calcinuria | n2=en:serum testosterone decreased | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:serum transferrin isoelectric focusing shows type 2 pattern
n1=en:calcinuria | n2=en:serum transferrin isoelectric focusing shows type 2 pattern | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:shortened metaphase
n1=en:calcinuria | n2=en:shortened metaphase | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity
n1=en:calcinuria | n2=en:some tissues may have normal levels of 3-hydroxyacyl-coa dehydrogenase activity | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:structural abnormalities seen on chromosome analysis
n1=en:calcinuria | n2=en:structural abnormalities seen on chromosome analysis | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish
n1=en:calcinuria | n2=en:ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:tonofibril defect (cross-beta-protein structure)
n1=en:calcinuria | n2=en:tonofibril defect (cross-beta-protein structure) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:translocation (x,7)(p11.3,q11.21) - in some patients
n1=en:calcinuria | n2=en:translocation (x,7)(p11.3,q11.21) - in some patients | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:translocation or deletions involving 7p13 (severe case reports)
n1=en:calcinuria | n2=en:translocation or deletions involving 7p13 (severe case reports) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:type i, classic, decreased antithrombin iii levels
n1=en:calcinuria | n2=en:type i, classic, decreased antithrombin iii levels | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:type iii collagen defect
n1=en:calcinuria | n2=en:type iii collagen defect | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis
n1=en:calcinuria | n2=en:urinary calcium-creatinine ratio < 0.01:1 supports diagnosis | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid
n1=en:calcinuria | n2=en:urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:urinary excretion of sialylated oligosaccharides
n1=en:calcinuria | n2=en:urinary excretion of sialylated oligosaccharides | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
en:vitamin b12 deficiency (in some patients)
n1=en:calcinuria | n2=en:vitamin b12 deficiency (in some patients) | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
oxalurie
n1=en:calcinuria | n2=oxalurie | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 23 / 0.767 ->
urine
n1=en:calcinuria | n2=urine | rel=r_associated | relid=0 | w=23
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:'compensated hypothyroidism' with increased tsh and normal t4
n1=en:calcinuria | n2=en:'compensated hypothyroidism' with increased tsh and normal t4 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:3-methylglutaconic aciduria
n1=en:calcinuria | n2=en:3-methylglutaconic aciduria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:3-methylglutaric aciduria
n1=en:calcinuria | n2=en:3-methylglutaric aciduria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:abnormal igfr1 function
n1=en:calcinuria | n2=en:abnormal igfr1 function | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:abnormal liver enzymes (1 patient)
n1=en:calcinuria | n2=en:abnormal liver enzymes (1 patient) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:abnormal liver enzymes, episodic
n1=en:calcinuria | n2=en:abnormal liver enzymes, episodic | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:abnormal liver function tests (in some patients)
n1=en:calcinuria | n2=en:abnormal liver function tests (in some patients) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:abnormal nasal potential difference
n1=en:calcinuria | n2=en:abnormal nasal potential difference | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)
n1=en:calcinuria | n2=en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:affected mother has normal plasma zinc levels and is not zinc-deficient
n1=en:calcinuria | n2=en:affected mother has normal plasma zinc levels and is not zinc-deficient | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:alkaline phosphatase decreased
n1=en:calcinuria | n2=en:alkaline phosphatase decreased | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria
n1=en:calcinuria | n2=en:alpha-hydroxyadipic aciduria alpha-aminoadipic aciduria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:aminoaciduria, mild (in some patients)
n1=en:calcinuria | n2=en:aminoaciduria, mild (in some patients) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:amylo-1,6-glucosidase deficiency
n1=en:calcinuria | n2=en:amylo-1,6-glucosidase deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:anomalies of cholesterol levels
n1=en:calcinuria | n2=en:anomalies of cholesterol levels | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:anti-iga antibodies commonly present
n1=en:calcinuria | n2=en:anti-iga antibodies commonly present | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:antineutrophil cytoplasmic antibody
n1=en:calcinuria | n2=en:antineutrophil cytoplasmic antibody | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:antiribonuclear protein positive
n1=en:calcinuria | n2=en:antiribonuclear protein positive | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:aprt deficiency measured in erythrocyte lysate
n1=en:calcinuria | n2=en:aprt deficiency measured in erythrocyte lysate | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:at least 2 complementation groups
n1=en:calcinuria | n2=en:at least 2 complementation groups | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:beta-galactosidase deficiency in fibroblasts and white blood cells
n1=en:calcinuria | n2=en:beta-galactosidase deficiency in fibroblasts and white blood cells | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:blood pyruvic acid increased
n1=en:calcinuria | n2=en:blood pyruvic acid increased | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)
n1=en:calcinuria | n2=en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding
n1=en:calcinuria | n2=en:chromosomal mosaicism in fibroblast and/or peripheral lymphocytes no consistent karyotypic finding | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:chromosome 11q23.3 deletion
n1=en:calcinuria | n2=en:chromosome 11q23.3 deletion | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:cilia may also be static, with slow activity
n1=en:calcinuria | n2=en:cilia may also be static, with slow activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:citrullinemia
n1=en:calcinuria | n2=en:citrullinemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:coarse metachromatic granules in white blood cells
n1=en:calcinuria | n2=en:coarse metachromatic granules in white blood cells | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material
n1=en:calcinuria | n2=en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased activity of mitochondrial complex ii (succinate dehydrogenase)
n1=en:calcinuria | n2=en:decreased activity of mitochondrial complex ii (succinate dehydrogenase) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased activity of mitochondrial respiratory complexes i, iii, and iv
n1=en:calcinuria | n2=en:decreased activity of mitochondrial respiratory complexes i, iii, and iv | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values
n1=en:calcinuria | n2=en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased activity of tyrosine hydroxylase
n1=en:calcinuria | n2=en:decreased activity of tyrosine hydroxylase | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased adiponectin
n1=en:calcinuria | n2=en:decreased adiponectin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased aminoacylase-1 activity
n1=en:calcinuria | n2=en:decreased aminoacylase-1 activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased beta-glucocerebrosidase protein and activity
n1=en:calcinuria | n2=en:decreased beta-glucocerebrosidase protein and activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased beta-glucosidase protein and activity
n1=en:calcinuria | n2=en:decreased beta-glucosidase protein and activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased beta-oxidation of pristanic acid
n1=en:calcinuria | n2=en:decreased beta-oxidation of pristanic acid | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased csf 5-hydroxyindoleacetic acid (5hiaa)
n1=en:calcinuria | n2=en:decreased csf 5-hydroxyindoleacetic acid (5hiaa) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle
n1=en:calcinuria | n2=en:decreased cytochrome c oxidase activity in skin fibroblasts, liver, and skeletal muscle | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased grhpr activity
n1=en:calcinuria | n2=en:decreased grhpr activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased high molecular weight plasma factor viii/ vwf multimers
n1=en:calcinuria | n2=en:decreased high molecular weight plasma factor viii/ vwf multimers | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased levels of component x protein of the pdh complex
n1=en:calcinuria | n2=en:decreased levels of component x protein of the pdh complex | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased levels of cpt2 protein
n1=en:calcinuria | n2=en:decreased levels of cpt2 protein | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased levels of the e2 subunit protein
n1=en:calcinuria | n2=en:decreased levels of the e2 subunit protein | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased mitochondrial complex iii activity seen in muscle
n1=en:calcinuria | n2=en:decreased mitochondrial complex iii activity seen in muscle | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased mucosal alkaline phosphatase
n1=en:calcinuria | n2=en:decreased mucosal alkaline phosphatase | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased nk cells (in some patients)
n1=en:calcinuria | n2=en:decreased nk cells (in some patients) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased numbers of t regulatory cells
n1=en:calcinuria | n2=en:decreased numbers of t regulatory cells | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased or absent udp-glucuronyl-transferase activity
n1=en:calcinuria | n2=en:decreased or absent udp-glucuronyl-transferase activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased plasma apolipoprotein c-ii
n1=en:calcinuria | n2=en:decreased plasma apolipoprotein c-ii | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased plasma glycine
n1=en:calcinuria | n2=en:decreased plasma glycine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased plasma total cholesterol
n1=en:calcinuria | n2=en:decreased plasma total cholesterol | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased plasma triglycerides
n1=en:calcinuria | n2=en:decreased plasma triglycerides | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased prpp synthetase activity in erythrocytes and fibroblasts
n1=en:calcinuria | n2=en:decreased prpp synthetase activity in erythrocytes and fibroblasts | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased serum 25-hydroxyvitamin d
n1=en:calcinuria | n2=en:decreased serum 25-hydroxyvitamin d | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased serum and salivary lactoferrin has been described in 1 family
n1=en:calcinuria | n2=en:decreased serum and salivary lactoferrin has been described in 1 family | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased serum haptoglobin
n1=en:calcinuria | n2=en:decreased serum haptoglobin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased serum l-transferrin (heterozygous patient)
n1=en:calcinuria | n2=en:decreased serum l-transferrin (heterozygous patient) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased switched memory b cells (in some patients)
n1=en:calcinuria | n2=en:decreased switched memory b cells (in some patients) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased tetrahydrobiopterin (bh4) in csf
n1=en:calcinuria | n2=en:decreased tetrahydrobiopterin (bh4) in csf | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased transferrin increased serum iron
n1=en:calcinuria | n2=en:decreased transferrin increased serum iron | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased urinary calcium and phosphate excretion
n1=en:calcinuria | n2=en:decreased urinary calcium and phosphate excretion | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:decreased-absent intestinal mucosa lactase activity
n1=en:calcinuria | n2=en:decreased-absent intestinal mucosa lactase activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:defective dna repair after ultraviolet radiation damage
n1=en:calcinuria | n2=en:defective dna repair after ultraviolet radiation damage | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:di- and trihydroxycholestanoic acid accumulation
n1=en:calcinuria | n2=en:di- and trihydroxycholestanoic acid accumulation | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:disorganized growth plate cartilage
n1=en:calcinuria | n2=en:disorganized growth plate cartilage | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:disseminated intravascular coagulation
n1=en:calcinuria | n2=en:disseminated intravascular coagulation | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:dyskinetic ciliary motility
n1=en:calcinuria | n2=en:dyskinetic ciliary motility | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:electrocardiogram abnormal
n1=en:calcinuria | n2=en:electrocardiogram abnormal | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)
n1=en:calcinuria | n2=en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated fecal levels of protoporphyrin and coproporphyrin at all times
n1=en:calcinuria | n2=en:elevated fecal levels of protoporphyrin and coproporphyrin at all times | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated hcg or afp or both (embryonal carcinoma)
n1=en:calcinuria | n2=en:elevated hcg or afp or both (embryonal carcinoma) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated levels of vitamin b12
n1=en:calcinuria | n2=en:elevated levels of vitamin b12 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated plasma alloisoleucine
n1=en:calcinuria | n2=en:elevated plasma alloisoleucine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated plasma campesterol
n1=en:calcinuria | n2=en:elevated plasma campesterol | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated sepiapterin in csf
n1=en:calcinuria | n2=en:elevated sepiapterin in csf | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated serum iron
n1=en:calcinuria | n2=en:elevated serum iron | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated serum levels of follicle stimulating hormone (fsh)
n1=en:calcinuria | n2=en:elevated serum levels of follicle stimulating hormone (fsh) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:elevated serum uric acid concentrations
n1=en:calcinuria | n2=en:elevated serum uric acid concentrations | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:epstein-barr viraemia
n1=en:calcinuria | n2=en:epstein-barr viraemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:ethylmalonic aciduria
n1=en:calcinuria | n2=en:ethylmalonic aciduria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:excessive iodide trapping
n1=en:calcinuria | n2=en:excessive iodide trapping | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:factor vii deficiency
n1=en:calcinuria | n2=en:factor vii deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:factor viii deficiency
n1=en:calcinuria | n2=en:factor viii deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:fasting hyperinsulinemia
n1=en:calcinuria | n2=en:fasting hyperinsulinemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:fibroblasts shows defects in oxidative phosphorylation
n1=en:calcinuria | n2=en:fibroblasts shows defects in oxidative phosphorylation | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:fragmentation of the mitochondrial network
n1=en:calcinuria | n2=en:fragmentation of the mitochondrial network | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc
n1=en:calcinuria | n2=en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:fumarase deficiency
n1=en:calcinuria | n2=en:fumarase deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:galactosuria without galactosemia
n1=en:calcinuria | n2=en:galactosuria without galactosemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:galactosyltransferase i deficiency in fibroblasts
n1=en:calcinuria | n2=en:galactosyltransferase i deficiency in fibroblasts | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:gaucher disease, type 1
n1=en:calcinuria | n2=en:gaucher disease, type 1 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:glucosuria, mild, intermittent
n1=en:calcinuria | n2=en:glucosuria, mild, intermittent | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells
n1=en:calcinuria | n2=en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:green urine
n1=en:calcinuria | n2=en:green urine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement
n1=en:calcinuria | n2=en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hematuria (less common)
n1=en:calcinuria | n2=en:hematuria (less common) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:heparan sulfate excretion in urine
n1=en:calcinuria | n2=en:heparan sulfate excretion in urine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hereditary factor x deficiency
n1=en:calcinuria | n2=en:hereditary factor x deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:high ebv viral load
n1=en:calcinuria | n2=en:high ebv viral load | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:high sweat electrolyte
n1=en:calcinuria | n2=en:high sweat electrolyte | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:homocitrullinuria
n1=en:calcinuria | n2=en:homocitrullinuria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:homocystinemia
n1=en:calcinuria | n2=en:homocystinemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hyperchloremia (mean >110 mm in both dominant and recessive)
n1=en:calcinuria | n2=en:hyperchloremia (mean >110 mm in both dominant and recessive) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hyperchloremia (mean 111 mm)
n1=en:calcinuria | n2=en:hyperchloremia (mean 111 mm) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypermagnesemia
n1=en:calcinuria | n2=en:hypermagnesemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypermethioninemia, progressive
n1=en:calcinuria | n2=en:hypermethioninemia, progressive | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypernatremia
n1=en:calcinuria | n2=en:hypernatremia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hyperphosphatemia
n1=en:calcinuria | n2=en:hyperphosphatemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hyperphosphatemia, transient
n1=en:calcinuria | n2=en:hyperphosphatemia, transient | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hyperuricosuria
n1=en:calcinuria | n2=en:hyperuricosuria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypocholesterolemia
n1=en:calcinuria | n2=en:hypocholesterolemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypofibrinogenemia
n1=en:calcinuria | n2=en:hypofibrinogenemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypogammaglobulinemia, profound
n1=en:calcinuria | n2=en:hypogammaglobulinemia, profound | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypoglycemia, intermittent
n1=en:calcinuria | n2=en:hypoglycemia, intermittent | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypoglycosylated serum transferrin
n1=en:calcinuria | n2=en:hypoglycosylated serum transferrin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypomethioninemia
n1=en:calcinuria | n2=en:hypomethioninemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hyponatremia
n1=en:calcinuria | n2=en:hyponatremia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:hypoproteinemia
n1=en:calcinuria | n2=en:hypoproteinemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:immunoreactive pc protein
n1=en:calcinuria | n2=en:immunoreactive pc protein | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:impaired synthesis of fibroblast sulfated proteoglycans
n1=en:calcinuria | n2=en:impaired synthesis of fibroblast sulfated proteoglycans | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:inappropriately increased urine osmolality
n1=en:calcinuria | n2=en:inappropriately increased urine osmolality | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:inappropriately low urine osmolality
n1=en:calcinuria | n2=en:inappropriately low urine osmolality | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:inappropriately normal or increased plasma hepcidin
n1=en:calcinuria | n2=en:inappropriately normal or increased plasma hepcidin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased 11-deoxycortisol
n1=en:calcinuria | n2=en:increased 11-deoxycortisol | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased 18-hydroxycortisol
n1=en:calcinuria | n2=en:increased 18-hydroxycortisol | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus
n1=en:calcinuria | n2=en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased creatine kinase (ck)
n1=en:calcinuria | n2=en:increased creatine kinase (ck) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased csf protein
n1=en:calcinuria | n2=en:increased csf protein | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased di- and asialo-transferrin
n1=en:calcinuria | n2=en:increased di- and asialo-transferrin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased fibroblast free sialic acid
n1=en:calcinuria | n2=en:increased fibroblast free sialic acid | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased free cyanocobalamin in fibroblasts
n1=en:calcinuria | n2=en:increased free cyanocobalamin in fibroblasts | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased levels of carcinoembryonic antigen
n1=en:calcinuria | n2=en:increased levels of carcinoembryonic antigen | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased or normal serum growth hormone (gh, 139250)
n1=en:calcinuria | n2=en:increased or normal serum growth hormone (gh, 139250) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)
n1=en:calcinuria | n2=en:increased oxygen affinity (e.g. hb nunobiki 141800.0109) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased platelet aggregation with ristocetin
n1=en:calcinuria | n2=en:increased platelet aggregation with ristocetin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased prevalence among the native american lumbee indians
n1=en:calcinuria | n2=en:increased prevalence among the native american lumbee indians | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased prv-1 (162860) mrna
n1=en:calcinuria | n2=en:increased prv-1 (162860) mrna | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased renal tubular phosphate reabsorption
n1=en:calcinuria | n2=en:increased renal tubular phosphate reabsorption | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum 1,25-dihydroxyvitamin d3
n1=en:calcinuria | n2=en:increased serum 1,25-dihydroxyvitamin d3 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum alanine
n1=en:calcinuria | n2=en:increased serum alanine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum alpha-mannosidase
n1=en:calcinuria | n2=en:increased serum alpha-mannosidase | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum bile acids
n1=en:calcinuria | n2=en:increased serum bile acids | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum creatine kinase, mild
n1=en:calcinuria | n2=en:increased serum creatine kinase, mild | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum glycerol
n1=en:calcinuria | n2=en:increased serum glycerol | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum growth hormone levels
n1=en:calcinuria | n2=en:increased serum growth hormone levels | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum insulin-like growth factor-1 (igf1, 147740)
n1=en:calcinuria | n2=en:increased serum insulin-like growth factor-1 (igf1, 147740) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum lactate dehydrogenase (ldh)
n1=en:calcinuria | n2=en:increased serum lactate dehydrogenase (ldh) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum lysine (group b)
n1=en:calcinuria | n2=en:increased serum lysine (group b) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum methionine (reported in 2 cases)
n1=en:calcinuria | n2=en:increased serum methionine (reported in 2 cases) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum parathyroid hormone (pth)
n1=en:calcinuria | n2=en:increased serum parathyroid hormone (pth) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased serum uric acid
n1=en:calcinuria | n2=en:increased serum uric acid | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased tissue long-chain fatty acids
n1=en:calcinuria | n2=en:increased tissue long-chain fatty acids | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary 2-butanone
n1=en:calcinuria | n2=en:increased urinary 2-butanone | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary 2-methylbutyrylglycine
n1=en:calcinuria | n2=en:increased urinary 2-methylbutyrylglycine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary carnitine
n1=en:calcinuria | n2=en:increased urinary carnitine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary cyclic amp (camp) in response to ddavp administration
n1=en:calcinuria | n2=en:increased urinary cyclic amp (camp) in response to ddavp administration | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary excretion of 4-hydroxybutyric acid (ghb)
n1=en:calcinuria | n2=en:increased urinary excretion of 4-hydroxybutyric acid (ghb) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary hydroxyisovaleric acid
n1=en:calcinuria | n2=en:increased urinary hydroxyisovaleric acid | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary hypoxanthine
n1=en:calcinuria | n2=en:increased urinary hypoxanthine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary l-glycerate
n1=en:calcinuria | n2=en:increased urinary l-glycerate | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary methylcitrate
n1=en:calcinuria | n2=en:increased urinary methylcitrate | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary oligosaccharides
n1=en:calcinuria | n2=en:increased urinary oligosaccharides | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary propionyl glycine
n1=en:calcinuria | n2=en:increased urinary propionyl glycine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary sulfite
n1=en:calcinuria | n2=en:increased urinary sulfite | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urinary urate
n1=en:calcinuria | n2=en:increased urinary urate | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:increased urine porphyrins at times
n1=en:calcinuria | n2=en:increased urine porphyrins at times | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:interstitial deletion of 17p11.2 (most common is 3.7mb)
n1=en:calcinuria | n2=en:interstitial deletion of 17p11.2 (most common is 3.7mb) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:interstitial or terminal deletion of 18q
n1=en:calcinuria | n2=en:interstitial or terminal deletion of 18q | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:intracellular accumulation of unesterified cholesterol
n1=en:calcinuria | n2=en:intracellular accumulation of unesterified cholesterol | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:iodide organification defect
n1=en:calcinuria | n2=en:iodide organification defect | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:ketosis
n1=en:calcinuria | n2=en:ketosis | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:lactic acidosis
n1=en:calcinuria | n2=en:lactic acidosis | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:leukotriene c4 synthetase deficiency
n1=en:calcinuria | n2=en:leukotriene c4 synthetase deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:liver function tests normal
n1=en:calcinuria | n2=en:liver function tests normal | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:low cd4+ count
n1=en:calcinuria | n2=en:low cd4+ count | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:low level of c4 and c2
n1=en:calcinuria | n2=en:low level of c4 and c2 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:low or absent iga levels
n1=en:calcinuria | n2=en:low or absent iga levels | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:low or low-normal serum t4
n1=en:calcinuria | n2=en:low or low-normal serum t4 | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:low or normal serum erythropoietin
n1=en:calcinuria | n2=en:low or normal serum erythropoietin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:low serum alkaline phosphatase in heterozygotes
n1=en:calcinuria | n2=en:low serum alkaline phosphatase in heterozygotes | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:median mean platelet volume (mpv) 20fl
n1=en:calcinuria | n2=en:median mean platelet volume (mpv) 20fl | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:methylmalonyl-coenzyme a mutase deficiency
n1=en:calcinuria | n2=en:methylmalonyl-coenzyme a mutase deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:microsomal hmg-coa reductase decreased
n1=en:calcinuria | n2=en:microsomal hmg-coa reductase decreased | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:mild hyperammonemia
n1=en:calcinuria | n2=en:mild hyperammonemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:mild to moderate thrombocytopenia (40-120 x 10(9)/l)
n1=en:calcinuria | n2=en:mild to moderate thrombocytopenia (40-120 x 10(9)/l) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:mildly prolonged bleeding time 10-12 minutes
n1=en:calcinuria | n2=en:mildly prolonged bleeding time 10-12 minutes | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes
n1=en:calcinuria | n2=en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy (50%) affecting all chromosomes | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:n-glycosylation defect
n1=en:calcinuria | n2=en:n-glycosylation defect | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:nephrotic syndrome
n1=en:calcinuria | n2=en:nephrotic syndrome | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:neurofibrillary tangles and neuritic senile plaques rare
n1=en:calcinuria | n2=en:neurofibrillary tangles and neuritic senile plaques rare | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:no c8 antigen detected
n1=en:calcinuria | n2=en:no c8 antigen detected | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:no hyperphenylalaninemia
n1=en:calcinuria | n2=en:no hyperphenylalaninemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:no increased sensitivity to oxidative species
n1=en:calcinuria | n2=en:no increased sensitivity to oxidative species | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:no mucopolysacchariduria
n1=en:calcinuria | n2=en:no mucopolysacchariduria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal 46,xy karyotype
n1=en:calcinuria | n2=en:normal 46,xy karyotype | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal csf 5-hydroxyindoleacetic acid (5-hiaa)
n1=en:calcinuria | n2=en:normal csf 5-hydroxyindoleacetic acid (5-hiaa) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration
n1=en:calcinuria | n2=en:normal ellsworth-howard test, normal urinary camp response to parathyroid hormone (pth) administration | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function)
n1=en:calcinuria | n2=en:normal endocrinologic studies (growth hormone, somatomedin c, thyroid function) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal parathyroid hormone (female)
n1=en:calcinuria | n2=en:normal parathyroid hormone (female) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal serum bile acids
n1=en:calcinuria | n2=en:normal serum bile acids | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal serum biotin concentration
n1=en:calcinuria | n2=en:normal serum biotin concentration | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal serum cobalamin (vitamin b12)
n1=en:calcinuria | n2=en:normal serum cobalamin (vitamin b12) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal serum levels of gamma-ggt (231950)
n1=en:calcinuria | n2=en:normal serum levels of gamma-ggt (231950) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal sweat chloride (3 of 3 patients)
n1=en:calcinuria | n2=en:normal sweat chloride (3 of 3 patients) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal transferrin isoelectric profile
n1=en:calcinuria | n2=en:normal transferrin isoelectric profile | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:normal-elevated plasma testosterone (male range)
n1=en:calcinuria | n2=en:normal-elevated plasma testosterone (male range) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:occasionally mild elevation of csf protein
n1=en:calcinuria | n2=en:occasionally mild elevation of csf protein | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:oligospermia or azoospermia
n1=en:calcinuria | n2=en:oligospermia or azoospermia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:orotic aciduria
n1=en:calcinuria | n2=en:orotic aciduria | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:panhypogammaglobulinemia
n1=en:calcinuria | n2=en:panhypogammaglobulinemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:partial deficiency of factor xiii(c)
n1=en:calcinuria | n2=en:partial deficiency of factor xiii(c) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:phosphaturia (in some)
n1=en:calcinuria | n2=en:phosphaturia (in some) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:platelet count normal
n1=en:calcinuria | n2=en:platelet count normal | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy
n1=en:calcinuria | n2=en:platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:pms have increased metabolic ratio of unchanged drug-to-metabolite in urine
n1=en:calcinuria | n2=en:pms have increased metabolic ratio of unchanged drug-to-metabolite in urine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:polyploid sperm heads
n1=en:calcinuria | n2=en:polyploid sperm heads | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:premature separation of centromeric heterochromatin
n1=en:calcinuria | n2=en:premature separation of centromeric heterochromatin | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:presence of cytochrome b(-245)
n1=en:calcinuria | n2=en:presence of cytochrome b(-245) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:presence of vacuoles on muscle biopsy
n1=en:calcinuria | n2=en:presence of vacuoles on muscle biopsy | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations
n1=en:calcinuria | n2=en:recurring t(11,14) and t(14,19)(q32,q13.1) translocations | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:reduced erythrocyte adenosine deaminase activity
n1=en:calcinuria | n2=en:reduced erythrocyte adenosine deaminase activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:reduced erythrocyte gs activity
n1=en:calcinuria | n2=en:reduced erythrocyte gs activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:reduced serum uric acid
n1=en:calcinuria | n2=en:reduced serum uric acid | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:rheumatoid factor positive (finding)
n1=en:calcinuria | n2=en:rheumatoid factor positive (finding) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:serum c-peptide and glucagon levels measurable
n1=en:calcinuria | n2=en:serum c-peptide and glucagon levels measurable | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:severely decreased antigen levels of vwf and factor viii
n1=en:calcinuria | n2=en:severely decreased antigen levels of vwf and factor viii | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:shortened telomeres (1 patient)
n1=en:calcinuria | n2=en:shortened telomeres (1 patient) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:sweat test normal
n1=en:calcinuria | n2=en:sweat test normal | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:thyroid hormone organification defect
n1=en:calcinuria | n2=en:thyroid hormone organification defect | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:transaminitis
n1=en:calcinuria | n2=en:transaminitis | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:transcobalamin ii deficiency
n1=en:calcinuria | n2=en:transcobalamin ii deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:transient hyperlipidemia
n1=en:calcinuria | n2=en:transient hyperlipidemia | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:transient neonatal hypoglycemia (2p21del)
n1=en:calcinuria | n2=en:transient neonatal hypoglycemia (2p21del) | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:tyrosine iodination defect
n1=en:calcinuria | n2=en:tyrosine iodination defect | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:undetectable plasma dbh activity
n1=en:calcinuria | n2=en:undetectable plasma dbh activity | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:undetectable urinary hypoxanthine
n1=en:calcinuria | n2=en:undetectable urinary hypoxanthine | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:variable respiratory chain enzyme deficiency
n1=en:calcinuria | n2=en:variable respiratory chain enzyme deficiency | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 22 / 0.733 ->
en:xanthine nephrolithiasis
n1=en:calcinuria | n2=en:xanthine nephrolithiasis | rel=r_associated | relid=0 | w=22
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:3-methylglutaric aciduria (3-mga)
n1=en:calcinuria | n2=en:3-methylglutaric aciduria (3-mga) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:abnormal cholesterol homeostasis
n1=en:calcinuria | n2=en:abnormal cholesterol homeostasis | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:abnormal isoelectric focusing of serum transferrin
n1=en:calcinuria | n2=en:abnormal isoelectric focusing of serum transferrin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:abnormal serum protein electrophoresis (elevated alpha-2 band)
n1=en:calcinuria | n2=en:abnormal serum protein electrophoresis (elevated alpha-2 band) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem
n1=en:calcinuria | n2=en:abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and brainstem | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)
n1=en:calcinuria | n2=en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:absence of cpt ii protein
n1=en:calcinuria | n2=en:absence of cpt ii protein | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:absent anti-insulin receptor antibodies
n1=en:calcinuria | n2=en:absent anti-insulin receptor antibodies | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:absent igg2 subclass
n1=en:calcinuria | n2=en:absent igg2 subclass | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:absent or abnormal thyroglobulin
n1=en:calcinuria | n2=en:absent or abnormal thyroglobulin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:acth normal
n1=en:calcinuria | n2=en:acth normal | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:adenylosuccinase deficiency (finding)
n1=en:calcinuria | n2=en:adenylosuccinase deficiency (finding) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)
n1=en:calcinuria | n2=en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts
n1=en:calcinuria | n2=en:alpha-galactosidase a deficiency in plasma, leukocytes, or fibroblasts | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:aminoaciduria (rare)
n1=en:calcinuria | n2=en:aminoaciduria (rare) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:amorphous hyaline substance (skin biopsy and visceral organs)
n1=en:calcinuria | n2=en:amorphous hyaline substance (skin biopsy and visceral organs) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies
n1=en:calcinuria | n2=en:anaphase loss or nondisjunction with trisomies, tetrasomies, monosomies | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:aneuploidy of the x chromosome
n1=en:calcinuria | n2=en:aneuploidy of the x chromosome | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:anti-ssb positive
n1=en:calcinuria | n2=en:anti-ssb positive | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:antineutrophil antibody positivity
n1=en:calcinuria | n2=en:antineutrophil antibody positivity | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:antiphospholipid antibody
n1=en:calcinuria | n2=en:antiphospholipid antibody | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:atrial abnormalities on electrocardiogram
n1=en:calcinuria | n2=en:atrial abnormalities on electrocardiogram | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:beta-glucuronidase deficiency in fibroblasts and leukocytes
n1=en:calcinuria | n2=en:beta-glucuronidase deficiency in fibroblasts and leukocytes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:bone marrow hypoplasia (in some patients)
n1=en:calcinuria | n2=en:bone marrow hypoplasia (in some patients) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:cerebrospinal fluid oligoclonal bands
n1=en:calcinuria | n2=en:cerebrospinal fluid oligoclonal bands | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:cholesterol low
n1=en:calcinuria | n2=en:cholesterol low | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16
n1=en:calcinuria | n2=en:chromosomal breakage and abnormalities of the juxtacentromeric regions of chromosomes 1, 9, and 16 | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:chromosome deletion extending from 8q24.11 to 8q24.13
n1=en:calcinuria | n2=en:chromosome deletion extending from 8q24.11 to 8q24.13 | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:chronic hypoxemia
n1=en:calcinuria | n2=en:chronic hypoxemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:creatine kinase levels may normalize with disease progression
n1=en:calcinuria | n2=en:creatine kinase levels may normalize with disease progression | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:creatine kinase normal between episodes
n1=en:calcinuria | n2=en:creatine kinase normal between episodes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:cystathioninemia
n1=en:calcinuria | n2=en:cystathioninemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:cytogenetic deletion of chromosome 19q13
n1=en:calcinuria | n2=en:cytogenetic deletion of chromosome 19q13 | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased acid sphingomyelinase activity (less than 5%)
n1=en:calcinuria | n2=en:decreased acid sphingomyelinase activity (less than 5%) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased activity of 2-oxoacid dehydrogenases
n1=en:calcinuria | n2=en:decreased activity of 2-oxoacid dehydrogenases | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased activity of galactocerebrosidase
n1=en:calcinuria | n2=en:decreased activity of galactocerebrosidase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased activity of the pdh phosphatase
n1=en:calcinuria | n2=en:decreased activity of the pdh phosphatase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased activity of triosephosphate isomerase
n1=en:calcinuria | n2=en:decreased activity of triosephosphate isomerase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased antithrombin iii (rare)
n1=en:calcinuria | n2=en:decreased antithrombin iii (rare) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased apoa-i and apoa-ii
n1=en:calcinuria | n2=en:decreased apoa-i and apoa-ii | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased carnitine in serum, muscle, heart, and liver
n1=en:calcinuria | n2=en:decreased carnitine in serum, muscle, heart, and liver | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased csf ferritin despite normal serum ferritin levels
n1=en:calcinuria | n2=en:decreased csf ferritin despite normal serum ferritin levels | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased csf homovanillic acid (hva)
n1=en:calcinuria | n2=en:decreased csf homovanillic acid (hva) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins
n1=en:calcinuria | n2=en:decreased expression of glycosylphosphatidylinositol-anchored membrane proteins | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased fibroblast alpha-mannosidase
n1=en:calcinuria | n2=en:decreased fibroblast alpha-mannosidase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased fibroblast arylsulfatase a
n1=en:calcinuria | n2=en:decreased fibroblast arylsulfatase a | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased gtp cyclohydrolase i activity (about 20% of normal)
n1=en:calcinuria | n2=en:decreased gtp cyclohydrolase i activity (about 20% of normal) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased hexokinase activity in red blood cells
n1=en:calcinuria | n2=en:decreased hexokinase activity in red blood cells | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased methylcobalamin (mecbl)
n1=en:calcinuria | n2=en:decreased methylcobalamin (mecbl) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased or absent apolipoprotein a-i
n1=en:calcinuria | n2=en:decreased or absent apolipoprotein a-i | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased or absent serum citrulline
n1=en:calcinuria | n2=en:decreased or absent serum citrulline | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased or increased serum testosterone
n1=en:calcinuria | n2=en:decreased or increased serum testosterone | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased or normal plasma insulin
n1=en:calcinuria | n2=en:decreased or normal plasma insulin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values)
n1=en:calcinuria | n2=en:decreased phosphoglucomutase 1 (pgm1) activity (less than 10% of normal values) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)
n1=en:calcinuria | n2=en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased plasma and urinary ornithine
n1=en:calcinuria | n2=en:decreased plasma and urinary ornithine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased plasma hdl (<1/10 of normal levels)
n1=en:calcinuria | n2=en:decreased plasma hdl (<1/10 of normal levels) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased plasminogen activity
n1=en:calcinuria | n2=en:decreased plasminogen activity | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased plasminogen antigen
n1=en:calcinuria | n2=en:decreased plasminogen antigen | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased platelet derived growth factor
n1=en:calcinuria | n2=en:decreased platelet derived growth factor | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased serum 18-ohb
n1=en:calcinuria | n2=en:decreased serum 18-ohb | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased serum b12 levels
n1=en:calcinuria | n2=en:decreased serum b12 levels | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased serum bun
n1=en:calcinuria | n2=en:decreased serum bun | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased serum iga
n1=en:calcinuria | n2=en:decreased serum iga | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased serum insulin-like growth factor-1 (igf1)
n1=en:calcinuria | n2=en:decreased serum insulin-like growth factor-1 (igf1) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:decreased urinary sulfate
n1=en:calcinuria | n2=en:decreased urinary sulfate | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:defective dna repair
n1=en:calcinuria | n2=en:defective dna repair | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:deficiency of saposins a, b, c, and d
n1=en:calcinuria | n2=en:deficiency of saposins a, b, c, and d | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:deficient fibroblast aicar-tf activity
n1=en:calcinuria | n2=en:deficient fibroblast aicar-tf activity | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma
n1=en:calcinuria | n2=en:delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:dermatan and heparan sulfate excretion in urine
n1=en:calcinuria | n2=en:dermatan and heparan sulfate excretion in urine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease
n1=en:calcinuria | n2=en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material
n1=en:calcinuria | n2=en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency
n1=en:calcinuria | n2=en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:electron microscopy of patient respiratory cells shows absent inner and outer dynein arms
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows absent inner and outer dynein arms | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme
n1=en:calcinuria | n2=en:electron microscopy of patient respiratory cells shows absent outer dynein arms in the axoneme | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated 3-hydroxypropionic acid
n1=en:calcinuria | n2=en:elevated 3-hydroxypropionic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated 8(9)-cholestenol
n1=en:calcinuria | n2=en:elevated 8(9)-cholestenol | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated alkaline phosphatase
n1=en:calcinuria | n2=en:elevated alkaline phosphatase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated calcitonin
n1=en:calcinuria | n2=en:elevated calcitonin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated cerebrospinal fluid (csf) protein
n1=en:calcinuria | n2=en:elevated cerebrospinal fluid (csf) protein | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated il1-beta
n1=en:calcinuria | n2=en:elevated il1-beta | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated long chain fatty acids
n1=en:calcinuria | n2=en:elevated long chain fatty acids | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated plasma ammonia
n1=en:calcinuria | n2=en:elevated plasma ammonia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated serum alkaline phosphatase during hyperplastic callus formation
n1=en:calcinuria | n2=en:elevated serum alkaline phosphatase during hyperplastic callus formation | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated serum alpha-fetoprotein (dominant)
n1=en:calcinuria | n2=en:elevated serum alpha-fetoprotein (dominant) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated serum phosphorus
n1=en:calcinuria | n2=en:elevated serum phosphorus | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated testosterone
n1=en:calcinuria | n2=en:elevated testosterone | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated total cholesterol (seen in heterozygotes as well)
n1=en:calcinuria | n2=en:elevated total cholesterol (seen in heterozygotes as well) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:elevated urinary mevalonic acid
n1=en:calcinuria | n2=en:elevated urinary mevalonic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue
n1=en:calcinuria | n2=en:enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:euvolemia
n1=en:calcinuria | n2=en:euvolemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:excretion of dermatan sulfate and heparan sulfate in urine
n1=en:calcinuria | n2=en:excretion of dermatan sulfate and heparan sulfate in urine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:extremely low creatine excretion
n1=en:calcinuria | n2=en:extremely low creatine excretion | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
n1=en:calcinuria | n2=en:fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v
n1=en:calcinuria | n2=en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:foam cells in bone marrow and renal glomeruli
n1=en:calcinuria | n2=en:foam cells in bone marrow and renal glomeruli | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:fumarase activity (mitochondrial and cytosolic) is decreased
n1=en:calcinuria | n2=en:fumarase activity (mitochondrial and cytosolic) is decreased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts
n1=en:calcinuria | n2=en:galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:galactosylation defects
n1=en:calcinuria | n2=en:galactosylation defects | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency
n1=en:calcinuria | n2=en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage
n1=en:calcinuria | n2=en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:glomerular filtration rate decreased
n1=en:calcinuria | n2=en:glomerular filtration rate decreased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:glucose breath hydrogen test shows malabsorption of glucose and galactose
n1=en:calcinuria | n2=en:glucose breath hydrogen test shows malabsorption of glucose and galactose | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:glycosuria
n1=en:calcinuria | n2=en:glycosuria | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hair bulb tyrosinase present
n1=en:calcinuria | n2=en:hair bulb tyrosinase present | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hemoglobin f increased
n1=en:calcinuria | n2=en:hemoglobin f increased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:heparan n-sulfatase deficiency in fibroblasts and amniocytes
n1=en:calcinuria | n2=en:heparan n-sulfatase deficiency in fibroblasts and amniocytes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hereditary angioedema
n1=en:calcinuria | n2=en:hereditary angioedema | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:high nonceruloplasmin-bound serum copper
n1=en:calcinuria | n2=en:high nonceruloplasmin-bound serum copper | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:high plasma asparagine
n1=en:calcinuria | n2=en:high plasma asparagine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:high plasma triglyceride levels
n1=en:calcinuria | n2=en:high plasma triglyceride levels | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:high sweat sodium and chloride
n1=en:calcinuria | n2=en:high sweat sodium and chloride | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:homocystinuria
n1=en:calcinuria | n2=en:homocystinuria | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hydroxyprolinuria
n1=en:calcinuria | n2=en:hydroxyprolinuria | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperalphalipoproteinemia
n1=en:calcinuria | n2=en:hyperalphalipoproteinemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperbilirubinemia
n1=en:calcinuria | n2=en:hyperbilirubinemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperchloridura
n1=en:calcinuria | n2=en:hyperchloridura | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hypercholesterolemia (10%)
n1=en:calcinuria | n2=en:hypercholesterolemia (10%) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperglutaminemia
n1=en:calcinuria | n2=en:hyperglutaminemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperglycemia
n1=en:calcinuria | n2=en:hyperglycemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperglycinemia
n1=en:calcinuria | n2=en:hyperglycinemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperkalemia (6.4 +/- 0.7 mm)
n1=en:calcinuria | n2=en:hyperkalemia (6.4 +/- 0.7 mm) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperkalemia during attacks
n1=en:calcinuria | n2=en:hyperkalemia during attacks | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperlipoproteinemia type iib
n1=en:calcinuria | n2=en:hyperlipoproteinemia type iib | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyperthreoninemia
n1=en:calcinuria | n2=en:hyperthreoninemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hypocalcemia (64% of adults)
n1=en:calcinuria | n2=en:hypocalcemia (64% of adults) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hypoprebetalipoproteinemia
n1=en:calcinuria | n2=en:hypoprebetalipoproteinemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:hyposialylation of o-linked serum glycans
n1=en:calcinuria | n2=en:hyposialylation of o-linked serum glycans | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:immunoglobulin a decreased
n1=en:calcinuria | n2=en:immunoglobulin a decreased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:impaired platelet aggregation
n1=en:calcinuria | n2=en:impaired platelet aggregation | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:inclusion bodies (membrane-bound vacuoles) in fibroblasts
n1=en:calcinuria | n2=en:inclusion bodies (membrane-bound vacuoles) in fibroblasts | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased beta-alanine (in 1 of 2 patients)
n1=en:calcinuria | n2=en:increased beta-alanine (in 1 of 2 patients) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased c10:2-carnitine
n1=en:calcinuria | n2=en:increased c10:2-carnitine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased chromosomal breakage
n1=en:calcinuria | n2=en:increased chromosomal breakage | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased ck-mb
n1=en:calcinuria | n2=en:increased ck-mb | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased csf lactate during acute episodes
n1=en:calcinuria | n2=en:increased csf lactate during acute episodes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased erythrocyte-membrane calcium-magnesium-atpase
n1=en:calcinuria | n2=en:increased erythrocyte-membrane calcium-magnesium-atpase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased igg level
n1=en:calcinuria | n2=en:increased igg level | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased l-2-hydroxyglutaric acid in urine, serum, and csf
n1=en:calcinuria | n2=en:increased l-2-hydroxyglutaric acid in urine, serum, and csf | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased lactate in spinal fluid
n1=en:calcinuria | n2=en:increased lactate in spinal fluid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased nasal-potential difference (some)
n1=en:calcinuria | n2=en:increased nasal-potential difference (some) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased serum and urinary lactate
n1=en:calcinuria | n2=en:increased serum and urinary lactate | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased serum bilirubin (in some patients)
n1=en:calcinuria | n2=en:increased serum bilirubin (in some patients) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased serum lactate (patient a)
n1=en:calcinuria | n2=en:increased serum lactate (patient a) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased serum osteocalcin
n1=en:calcinuria | n2=en:increased serum osteocalcin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased serum unconjugated bilirubin
n1=en:calcinuria | n2=en:increased serum unconjugated bilirubin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde
n1=en:calcinuria | n2=en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased total and conjugated bilirubin
n1=en:calcinuria | n2=en:increased total and conjugated bilirubin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary 3-oh-isovaleric acid ketonuria
n1=en:calcinuria | n2=en:increased urinary 3-oh-isovaleric acid ketonuria | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary 3-oh-propionic acid
n1=en:calcinuria | n2=en:increased urinary 3-oh-propionic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary acetoacetic acid
n1=en:calcinuria | n2=en:increased urinary acetoacetic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary dicarboxylic acid, transient
n1=en:calcinuria | n2=en:increased urinary dicarboxylic acid, transient | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary dopamine
n1=en:calcinuria | n2=en:increased urinary dopamine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary homovanillic acid (hva)
n1=en:calcinuria | n2=en:increased urinary homovanillic acid (hva) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary succinic acid
n1=en:calcinuria | n2=en:increased urinary succinic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary sulfatide excretion
n1=en:calcinuria | n2=en:increased urinary sulfatide excretion | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary thymine
n1=en:calcinuria | n2=en:increased urinary thymine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary tricarboxylic acid intermediates
n1=en:calcinuria | n2=en:increased urinary tricarboxylic acid intermediates | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary vanillylmandelic acid (vma)
n1=en:calcinuria | n2=en:increased urinary vanillylmandelic acid (vma) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid
n1=en:calcinuria | n2=en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:infantile hypophosphatasia
n1=en:calcinuria | n2=en:infantile hypophosphatasia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:intermediate level of cellular sensitivity to uv light
n1=en:calcinuria | n2=en:intermediate level of cellular sensitivity to uv light | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:ketoses, metabolic
n1=en:calcinuria | n2=en:ketoses, metabolic | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:lactic acidemia
n1=en:calcinuria | n2=en:lactic acidemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:large spermatozoa
n1=en:calcinuria | n2=en:large spermatozoa | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm
n1=en:calcinuria | n2=en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:liver phosphorylase kinase (phk) deficiency
n1=en:calcinuria | n2=en:liver phosphorylase kinase (phk) deficiency | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:long-chain ketonuria
n1=en:calcinuria | n2=en:long-chain ketonuria | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)
n1=en:calcinuria | n2=en:loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low or absent growth hormone (gh)
n1=en:calcinuria | n2=en:low or absent growth hormone (gh) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low or absent thyroid-stimulating hormone (tsh)
n1=en:calcinuria | n2=en:low or absent thyroid-stimulating hormone (tsh) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low or absent thyrotropin (tsh)
n1=en:calcinuria | n2=en:low or absent thyrotropin (tsh) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low or undetectable insulin
n1=en:calcinuria | n2=en:low or undetectable insulin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low procollagen 1 c-peptide (in some patients)
n1=en:calcinuria | n2=en:low procollagen 1 c-peptide (in some patients) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low serum anti-mullerian hormone (amh) levels
n1=en:calcinuria | n2=en:low serum anti-mullerian hormone (amh) levels | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low serum ceruloplasmin
n1=en:calcinuria | n2=en:low serum ceruloplasmin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low serum cortisol
n1=en:calcinuria | n2=en:low serum cortisol | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low serum magnesium
n1=en:calcinuria | n2=en:low serum magnesium | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low to low-normal magnesium
n1=en:calcinuria | n2=en:low to low-normal magnesium | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:low to very low hdl cholesterol
n1=en:calcinuria | n2=en:low to very low hdl cholesterol | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:markedly elevated sodium in urine, sweat, saliva, and stool
n1=en:calcinuria | n2=en:markedly elevated sodium in urine, sweat, saliva, and stool | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mildly decreased serum creatinine
n1=en:calcinuria | n2=en:mildly decreased serum creatinine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mildly elevated creatine phosphokinase (cpk) (120270.0002)
n1=en:calcinuria | n2=en:mildly elevated creatine phosphokinase (cpk) (120270.0002) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mildly elevated hdl in heterozygotes
n1=en:calcinuria | n2=en:mildly elevated hdl in heterozygotes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes
n1=en:calcinuria | n2=en:mildly elevated phosphoethanolamine urinary excretion in heterozygotes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mildly increased serum lactate
n1=en:calcinuria | n2=en:mildly increased serum lactate | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mitochondrial malic enzyme reduced
n1=en:calcinuria | n2=en:mitochondrial malic enzyme reduced | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:monomeric igm
n1=en:calcinuria | n2=en:monomeric igm | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes
n1=en:calcinuria | n2=en:more than 50% of mitotic cells show premature chromatid separation (pcs) affecting all chromosomes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:mucopolysaccharidosis type iiid
n1=en:calcinuria | n2=en:mucopolysaccharidosis type iiid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:multiple tissue biopsies show lysosomal storage disease
n1=en:calcinuria | n2=en:multiple tissue biopsies show lysosomal storage disease | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii
n1=en:calcinuria | n2=en:muscle and liver tissue show decreased activities of mitochondrial complexes i, ii, and iii | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:myoglobinuria
n1=en:calcinuria | n2=en:myoglobinuria | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:myoglobinuria with extreme exertion
n1=en:calcinuria | n2=en:myoglobinuria with extreme exertion | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:neutrophilia, both basal and during infections
n1=en:calcinuria | n2=en:neutrophilia, both basal and during infections | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:no hyperuricemia
n1=en:calcinuria | n2=en:no hyperuricemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal constitutional karyotype
n1=en:calcinuria | n2=en:normal constitutional karyotype | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal iga levels
n1=en:calcinuria | n2=en:normal iga levels | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal lysl hydroxylase activity
n1=en:calcinuria | n2=en:normal lysl hydroxylase activity | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal number of t and b lymphocytes
n1=en:calcinuria | n2=en:normal number of t and b lymphocytes | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal or mildly decreased serum levels of free thyroid hormones
n1=en:calcinuria | n2=en:normal or mildly decreased serum levels of free thyroid hormones | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal or mildly reduced sphingomyelinase activity
n1=en:calcinuria | n2=en:normal or mildly reduced sphingomyelinase activity | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal platelet aggregation studies with adp, collagen, and ristocetin
n1=en:calcinuria | n2=en:normal platelet aggregation studies with adp, collagen, and ristocetin | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal pyridinoline excretion in urine
n1=en:calcinuria | n2=en:normal pyridinoline excretion in urine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal red cell counts
n1=en:calcinuria | n2=en:normal red cell counts | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal serum plasmalogen
n1=en:calcinuria | n2=en:normal serum plasmalogen | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal to elevated total plasma carnitine
n1=en:calcinuria | n2=en:normal to elevated total plasma carnitine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal to mildly increased serum creatine kinase
n1=en:calcinuria | n2=en:normal to mildly increased serum creatine kinase | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal transferrin saturation
n1=en:calcinuria | n2=en:normal transferrin saturation | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:normal-to-decreased plasma glycine (fasting)
n1=en:calcinuria | n2=en:normal-to-decreased plasma glycine (fasting) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:organic aciduria, mild (in some patients)
n1=en:calcinuria | n2=en:organic aciduria, mild (in some patients) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:p5c levels increased in urine
n1=en:calcinuria | n2=en:p5c levels increased in urine | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:parathyroid hormone level increased
n1=en:calcinuria | n2=en:parathyroid hormone level increased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:partial deficiency of factor xi (less common)
n1=en:calcinuria | n2=en:partial deficiency of factor xi (less common) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:partial deficiency of factor xi(c)
n1=en:calcinuria | n2=en:partial deficiency of factor xi(c) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:plasmalogen deficiency
n1=en:calcinuria | n2=en:plasmalogen deficiency | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:platelet glycoprotein iiia deficiency
n1=en:calcinuria | n2=en:platelet glycoprotein iiia deficiency | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:polymorphonuclear leukocytosis, episodic
n1=en:calcinuria | n2=en:polymorphonuclear leukocytosis, episodic | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:positive urine dnph screening test
n1=en:calcinuria | n2=en:positive urine dnph screening test | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:presence of pc mrna
n1=en:calcinuria | n2=en:presence of pc mrna | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:presence of serum anti-lu3 antibodies
n1=en:calcinuria | n2=en:presence of serum anti-lu3 antibodies | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:prothrombin time low
n1=en:calcinuria | n2=en:prothrombin time low | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients
n1=en:calcinuria | n2=en:reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:round, yellow-brown dha urine crystals
n1=en:calcinuria | n2=en:round, yellow-brown dha urine crystals | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:secondary decreased activity of argininosuccinate synthetase (ass1)
n1=en:calcinuria | n2=en:secondary decreased activity of argininosuccinate synthetase (ass1) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum alpha-1-antitrypsin (pi) deficiency
n1=en:calcinuria | n2=en:serum alpha-1-antitrypsin (pi) deficiency | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum cortisol decreased
n1=en:calcinuria | n2=en:serum cortisol decreased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum ferritin normal
n1=en:calcinuria | n2=en:serum ferritin normal | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum folate low
n1=en:calcinuria | n2=en:serum folate low | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum growth hormone increased
n1=en:calcinuria | n2=en:serum growth hormone increased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum pristanic acid increased
n1=en:calcinuria | n2=en:serum pristanic acid increased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum testosterone level normal
n1=en:calcinuria | n2=en:serum testosterone level normal | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:serum transferrin shows normal or mild hypo-glycosylation
n1=en:calcinuria | n2=en:serum transferrin shows normal or mild hypo-glycosylation | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:some cilia show central complex and radial spoke defects
n1=en:calcinuria | n2=en:some cilia show central complex and radial spoke defects | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:systemic accumulation of very long chain fatty acids (vlcfa)
n1=en:calcinuria | n2=en:systemic accumulation of very long chain fatty acids (vlcfa) | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:thyroid dyshormonogenesis 3
n1=en:calcinuria | n2=en:thyroid dyshormonogenesis 3 | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:transferrin saturation increased
n1=en:calcinuria | n2=en:transferrin saturation increased | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:tyrosine loss
n1=en:calcinuria | n2=en:tyrosine loss | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf
n1=en:calcinuria | n2=en:undetectable norepinephrine (noradrenaline) in plasma, urine, csf | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:uremia
n1=en:calcinuria | n2=en:uremia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:urinary excretion of 2-ethyl-3-keto-hexanoic acid
n1=en:calcinuria | n2=en:urinary excretion of 2-ethyl-3-keto-hexanoic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:urinary excretion of 2-ethyl-hexanedioic acid
n1=en:calcinuria | n2=en:urinary excretion of 2-ethyl-hexanedioic acid | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:urinary excretion of low-molecular-weight proteins, mild
n1=en:calcinuria | n2=en:urinary excretion of low-molecular-weight proteins, mild | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:variable hyperlipidemia
n1=en:calcinuria | n2=en:variable hyperlipidemia | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle
n1=en:calcinuria | n2=en:variably decreased activity of mitochondrial respiratory complexes i, iii, iv, and v in fibroblasts and muscle | rel=r_associated | relid=0 | w=21
- en:calcinuria --
r_associated #0: 21 / 0.7 ->
en:very long-chain fatty acids may be normal or increased
n1=en:calcinuria | n2=en:very long-chain fatty acids may be normal or increased | rel=r_associated | relid=0 | w=21
| ≈ 1212 relations entrantes
- calciurie ---
r_associated #0: 55 -->
en:calcinuria
n1=calciurie | n2=en:calcinuria | rel=r_associated | relid=0 | w=55
- en:calciuria ---
r_associated #0: 52 -->
en:calcinuria
n1=en:calciuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=52
- hyperbilirubinémie du nouveau-né ---
r_associated #0: 25 -->
en:calcinuria
n1=hyperbilirubinémie du nouveau-né | n2=en:calcinuria | rel=r_associated | relid=0 | w=25
- hyperbilirubinémie néonatale ---
r_associated #0: 25 -->
en:calcinuria
n1=hyperbilirubinémie néonatale | n2=en:calcinuria | rel=r_associated | relid=0 | w=25
- calcium ---
r_associated #0: 20 -->
en:calcinuria
n1=calcium | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood ---
r_associated #0: 20 -->
en:calcinuria
n1=en:1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:2,8-dihydroxyadenine (dha) urinary stones ---
r_associated #0: 20 -->
en:calcinuria
n1=en:2,8-dihydroxyadenine (dha) urinary stones | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:2-oxoadipic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:2-oxoadipic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:3-methylglutaconic aciduria (3-mgc) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:3-methylglutaconic aciduria (3-mgc) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:4-hydroxycyclohexylacetic aciduria (adults) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:4-hydroxycyclohexylacetic aciduria (adults) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:4-hydroxyphenylacetic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:4-hydroxyphenylacetic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:4-hydroxyphenylpyruvic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:4-hydroxyphenylpyruvic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:5-alpha-reductase-2 enzyme deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:5-alpha-reductase-2 enzyme deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:5-hiaa csf may be normal or decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:5-hiaa csf may be normal or decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:85-90% dgs patients have deletion of 22q11.2 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:85-90% dgs patients have deletion of 22q11.2 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:a subset of group b patients have absence of pc protein and mrna ---
r_associated #0: 20 -->
en:calcinuria
n1=en:a subset of group b patients have absence of pc protein and mrna | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aberrant gamma-interferon-mediated inflammation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aberrant gamma-interferon-mediated inflammation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal bone marrow karyotype, t(8,21) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal bone marrow karyotype, t(8,21) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal columnization of chondrocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal columnization of chondrocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal dystrophin on muscle biopsy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal dystrophin on muscle biopsy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal electrophoretic mobility of type ii collagen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal electrophoretic mobility of type ii collagen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal fecal fat ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal fecal fat | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal glycosylation of serum transferrin, type 1 pattern ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal glycosylation of serum transferrin, type 1 pattern | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) loss of complete n-glycans | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal isoelectric focusing of serum transferrin (type 2 pattern) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal isoelectric focusing of serum transferrin (type 2 pattern) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal karyotype in 3 patients involving distal 6p ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal karyotype in 3 patients involving distal 6p | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal karyotype in single reported female patient 46, xx,r(18)(p14q23) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver enzymes (rare) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver enzymes (rare) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver enzymes during illness ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver enzymes during illness | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver enzymes in those with hepatic cysts or fibrosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver enzymes in those with hepatic cysts or fibrosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver enzymes, intermittent ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver enzymes, intermittent | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver enzymes, intermittent (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver enzymes, intermittent (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver function test ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver function test | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver function tests (less common) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver function tests (less common) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver function tests (sgot, sgpt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver function tests (sgot, sgpt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal liver function tests during pregnancy, resolves postpartum ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal liver function tests during pregnancy, resolves postpartum | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal n-glycosylation of transferrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal n-glycosylation of transferrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal oral glucose tolerance ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal oral glucose tolerance | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal response to human chorionic gonadotropin indicates decreased testosterone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal response to human chorionic gonadotropin indicates decreased testosterone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal schilling test (not normalized by addition of intrinsic factor) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal schilling test (not normalized by addition of intrinsic factor) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal serum glycoproteins ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal serum glycoproteins | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal serum liver enzyme levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal serum liver enzyme levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal serum transferrin pattern (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal serum transferrin pattern (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal serum transferrin pattern by isoelectric focusing (hyposialylation) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal urinary compounds ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal urinary compounds | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal urinary oligosaccharides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal urinary oligosaccharides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:abnormal urinary organic acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:abnormal urinary organic acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absence of beta-ureidopropionase activity and protein in liver biopsy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absence of beta-ureidopropionase activity and protein in liver biopsy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absence of cd59 expression on red cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absence of cd59 expression on red cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absence of chylomicrons in lymph and plasma ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absence of chylomicrons in lymph and plasma | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absence of hepatic udp-glucuronyl-transferase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absence of hepatic udp-glucuronyl-transferase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absence of peroxidase staining in neutrophils and monocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absence of peroxidase staining in neutrophils and monocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent 7-dehydrocholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent 7-dehydrocholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent axonal flare response to intradermal histamine injection ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent axonal flare response to intradermal histamine injection | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent ch50 activity in complete c4 deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent ch50 activity in complete c4 deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent dystrophin on muscle biopsy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent dystrophin on muscle biopsy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent platelet agglutination in presence of ristocetin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent platelet agglutination in presence of ristocetin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent tyrosinase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent tyrosinase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent-decreased prolyl 3-hydroxylation at collagen i alpha-1 pro986 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:absent/reduced free proteins and absent total protein s ---
r_associated #0: 20 -->
en:calcinuria
n1=en:absent/reduced free proteins and absent total protein s | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:accumulation of neutral lipids (triglycerides) in leukocytes, muscle cells, fibroblasts, and cardiomyocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:accumulation of shortened dolichol-linked oligosaccharides in patient fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:acetylcholinesterase staining reveals nerve trunk hypertrophy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:acetylcholinesterase staining reveals nerve trunk hypertrophy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:acute hyperammonemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:acute hyperammonemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:acyl-coa:dihydroxyacetonephosphate acyltransferase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:acylglycinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:acylglycinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:agammaglobulinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:agammaglobulinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:alanine aminotransferase increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:alanine aminotransferase increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:albuminuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:albuminuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aldolase a deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aldolase a deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aldosterone concentration below normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aldosterone concentration below normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aldosterone level increased above normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aldosterone level increased above normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:alkaline phosphatase serum increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:alkaline phosphatase serum increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma ---
r_associated #0: 20 -->
en:calcinuria
n1=en:allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:alpha fetoprotein increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:alpha fetoprotein increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aminoaciduria (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aminoaciduria (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aminoaciduria (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aminoaciduria (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aminoaciduria (less common) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aminoaciduria (less common) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aminoadipic semialdehyde synthase (aass) deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aminoadipic semialdehyde synthase (aass) deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:androgens increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:androgens increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:anti-ds dna antibody ---
r_associated #0: 20 -->
en:calcinuria
n1=en:anti-ds dna antibody | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:anti-factor viii positive ---
r_associated #0: 20 -->
en:calcinuria
n1=en:anti-factor viii positive | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:anti-tissue transglutaminase antibodies (anti-ttg) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:anti-tissue transglutaminase antibodies (anti-ttg) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:antithrombin iii decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:antithrombin iii decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:antithrombin iii deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:antithrombin iii deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:appropriately increased serum 1,25-dihydroxyvitamin d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:appropriately increased serum 1,25-dihydroxyvitamin d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:argininosuccinic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:argininosuccinic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:aspartylglycosaminuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:aspartylglycosaminuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:associated with serum anti-phospholipid antibodies in about 50% of patients ---
r_associated #0: 20 -->
en:calcinuria
n1=en:associated with serum anti-phospholipid antibodies in about 50% of patients | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:axonemes show normal structure ---
r_associated #0: 20 -->
en:calcinuria
n1=en:axonemes show normal structure | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:azoospermia/oligospermia (present at diagnosis) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:azoospermia/oligospermia (present at diagnosis) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:azotemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:azotemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:b lymphocytopenia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:b lymphocytopenia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:balanced/unbalanced chromosomal translocation t(2,13)(q36,q11) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:bicarbonaturia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:bicarbonaturia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:bile contains cholesterol crystals ---
r_associated #0: 20 -->
en:calcinuria
n1=en:bile contains cholesterol crystals | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:bile shows increased cholesterol/phospholipid ratio ---
r_associated #0: 20 -->
en:calcinuria
n1=en:bile shows increased cholesterol/phospholipid ratio | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:bilirubin conjugated increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:bilirubin conjugated increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:blood glucose normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:blood glucose normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:blood urea nitrogen increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:blood urea nitrogen increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:borderline elevated low-density lipoprotein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:borderline elevated low-density lipoprotein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:breastfed offspring have transient decrease of plasma zinc levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:breastfed offspring have transient decrease of plasma zinc levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:c-band karyotype shows 'railroad track' appearance ---
r_associated #0: 20 -->
en:calcinuria
n1=en:c-band karyotype shows 'railroad track' appearance | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:calcium normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:calcium normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:carnitine deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:carnitine deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cd4+/cd8+ ratio often reversed ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cd4+/cd8+ ratio often reversed | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cell studies show increased dna breakage ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cell studies show increased dna breakage | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cellular arrest at g2 of the cell cycle ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cellular arrest at g2 of the cell cycle | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cholesterol normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cholesterol normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:chondroitin 4-, 6-sulfate excretion in urine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:chondroitin 4-, 6-sulfate excretion in urine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:chondroitin 6-sulfate excretion in urine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:chondroitin 6-sulfate excretion in urine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:chromosomal instability ---
r_associated #0: 20 -->
en:calcinuria
n1=en:chromosomal instability | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus ---
r_associated #0: 20 -->
en:calcinuria
n1=en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus ---
r_associated #0: 20 -->
en:calcinuria
n1=en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:chronic hypercapnia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:chronic hypercapnia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cilia show inner and outer dynein arm defects ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cilia show inner and outer dynein arm defects | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:coagulopathy (inr = 2.2 - 3.5) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:coagulopathy (inr = 2.2 - 3.5) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:continuous urinary iodine loss ---
r_associated #0: 20 -->
en:calcinuria
n1=en:continuous urinary iodine loss | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:creatine decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:creatine decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:creatine phosphokinase serum increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:creatine phosphokinase serum increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cystathioninuria (lab finding) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cystathioninuria (lab finding) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cytochrome c oxidase deficiency in skeletal muscle and brain ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cytochrome c oxidase deficiency in skeletal muscle and brain | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cytogenetic breakpoints range from 10q23.3-q26.2 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cytogenetic breakpoints range from 10q23.3-q26.2 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cytogenetic deletion of chromosome 17p13.3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cytogenetic deletion of chromosome 17p13.3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cytogenetics - recombinant chromosome 8 characterized by duplication of 8q22.1-qter and deletion of 8pter-p23.1 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:cytoplasmic lamellar concentric inclusions ---
r_associated #0: 20 -->
en:calcinuria
n1=en:cytoplasmic lamellar concentric inclusions | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:d-2-hydroxyglutaric aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:d-2-hydroxyglutaric aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decrease or absence of cathepsin d (ctsd) protein immunostaining ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decrease or absence of cathepsin d (ctsd) protein immunostaining | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decrease plasma serine (fasting) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decrease plasma serine (fasting) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased acetyl-coa carboxylase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased acetyl-coa carboxylase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activities of multiple sulfatases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activities of multiple sulfatases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of 3-methylcrotonyl-coa carboxylase (less than 2%) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of 3-methylglutaconyl-coa hydratase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of 3-methylglutaconyl-coa hydratase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of aromatic l-amino acid decarboxylase (aadc) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of aromatic l-amino acid decarboxylase (aadc) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of complement factor d ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of complement factor d | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, 100678) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of dihydrofolate reductase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of dihydrofolate reductase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of glycosylceramidase, galactosylceramidase, ceramidase, and other lysosomal enzymes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of mitochondrial complex i ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of mitochondrial complex i | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of mitochondrial respiratory chain complex i ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of mitochondrial respiratory chain complex i | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of mitochondrial respiratory complexes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of mitochondrial respiratory complexes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of nadph oxidase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of nadph oxidase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of phosphoglycerate kinase 1 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of phosphoglycerate kinase 1 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of ppt1 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of ppt1 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of pyruvate decarboxylase (e1 component) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of pyruvate decarboxylase (e1 component) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of pyruvate dehydrogenase complex ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of pyruvate dehydrogenase complex | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of the pyruvate dehydrogenase (pdh) complex ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of the pyruvate dehydrogenase (pdh) complex | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased activity of thymidine phosphorylase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased activity of thymidine phosphorylase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased adenosylcobalamin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased adenosylcobalamin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased alpha-n-acetylgalactosaminidase protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased alpha-n-acetylgalactosaminidase protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased amount and activity of mitochondrial complexes i and iv ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased amount and activity of mitochondrial complexes i and iv | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased asparagine levels (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased asparagine levels (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased atp synthase in muscle, heart, liver, and brain ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased atp synthase in muscle, heart, liver, and brain | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased b cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased b cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased beta-galactosidase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased beta-galactosidase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased c3 activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased c3 activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased c3 antigen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased c3 antigen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased cerebrospinal fluid folic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased cerebrospinal fluid folic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased cholesterol (less common) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased cholesterol (less common) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased circulating renin level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased circulating renin level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased cobalamin in liver, kidney, and cultured fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased cobalamin in liver, kidney, and cultured fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased conversion of beta-carotene to vitamin a (retinol) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased conversion of beta-carotene to vitamin a (retinol) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased copper, iron, zinc ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased copper, iron, zinc | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased cortisol-binding globulin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased cortisol-binding globulin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased cpt1 activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased cpt1 activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf 3-methoxy-4-hydroxyphenylethyleneglycol (mhpg) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf 5-hydroxyindoleacetic acid (5-hiaa) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf 5-hydroxyindoleacetic acid (5-hiaa) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf glycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf glycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf hypocretin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf hypocretin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf pyridoxal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf pyridoxal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf pyridoxal 5-prime-phosphate (plp) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf pyridoxal 5-prime-phosphate (plp) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf serine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf serine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased decr enzyme activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased decr enzyme activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased dermal hydroxylysine content ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased dermal hydroxylysine content | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased dihydroxyacetonephosphate acyltransferase (dhap-at) activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased dna excision repair ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased dna excision repair | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased dna polymerase-gamma (polg, 174763) activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased dna polymerase-gamma (polg, 174763) activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased eno3 activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased eno3 activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased erythrocyte lactate clearance (transport), 40 to 50% of normal values | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased erythrocyte plasmalogen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased erythrocyte plasmalogen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased expression of glycosylphosphatidylinositol-linked proteins (e.g., cd59 107271 and cd24 600274) on hematopoietic cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased factor xi ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased factor xi | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased fbp1 enzyme activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased fbp1 enzyme activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased fibroblast iduronate sulfatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased fibroblast iduronate sulfatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased formation of complex (tri-, tetra-antennary) n-glycans ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased formation of complex (tri-, tetra-antennary) n-glycans | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased free t(3)/free t(4) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased free t(3)/free t(4) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased fumarate hydratase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased fumarate hydratase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased glomerular filtration rate (gfr) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased glomerular filtration rate (gfr) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased glycerol kinase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased glycerol kinase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased hdl cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased hdl cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased hepatic gaba transaminase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased hepatic gaba transaminase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased hepatic udp-glucuronyl-transferase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased hepatic udp-glucuronyl-transferase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased iga, igg, igm ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased iga, igg, igm | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased insulin receptor binding ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased insulin receptor binding | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased intracellular fmr protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased intracellular fmr protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased leptin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased leptin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased levels of coenzyme q10 in skeletal muscle (5-35%) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased levels of coenzyme q10 in skeletal muscle (5-35%) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased levels of csf hypocretin (hcrt, 602358) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased levels of csf hypocretin (hcrt, 602358) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased levels of plasma factor viii ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased levels of plasma factor viii | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased levels of plasma factor viii in patients with type 2n ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased levels of plasma factor viii in patients with type 2n | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased levels of serum vitamin b12 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased levels of serum vitamin b12 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased lipid-linked oligosaccharides (llo) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased lipid-linked oligosaccharides (llo) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased liver homogentisate 1,2-dioxygenase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased liver homogentisate 1,2-dioxygenase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased long-chain fatty acid oxidation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased long-chain fatty acid oxidation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased methionine synthase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased methionine synthase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial complex iii activity (in fibroblasts of 1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial complex iii activity (skeletal muscle, fibroblasts) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial complex iii activity in liver and fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial complex iii activity in liver and fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial complex v assembly ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial complex v assembly | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial nadp(h) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial nadp(h) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial respiratory chain complex (2p21del) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial respiratory chain complex (2p21del) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased n-acetylglucosamine-1-phosphotransferase (glcnac - phosphotransferase) using lysosomal enzymes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased nasal nitric oxide (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased nasal nitric oxide (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased natural killer cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased natural killer cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased neopterin and biopterin in csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased neopterin and biopterin in csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased number of igf1 receptors (igf1r, 147370) on cell surface ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased number of igf1 receptors (igf1r, 147370) on cell surface | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent d-bifunctional protein activity and protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent d-bifunctional protein activity and protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent dihydropteridine reductase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent dihydropteridine reductase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent dihydropyrimidine dehydrogenase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent dihydropyrimidine dehydrogenase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent gch1 activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent gch1 activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent glycogen branching enzyme activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent glycogen branching enzyme activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent peroxisome acyl-coa oxidase activity and protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent peroxisome acyl-coa oxidase activity and protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent serum and urinary chenodeoxycholic acid and cholic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or absent steroid sulfatase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or absent steroid sulfatase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or low-normal serum parathyroid hormone (pth) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or low-normal serum parathyroid hormone (pth) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased or normal serum factor b ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased or normal serum factor b | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased phk activity in liver ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased phk activity in liver | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased phytanic acid oxidase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased phytanic acid oxidase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma and urinary guanidinoacetate (gaa) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma and urinary guanidinoacetate (gaa) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma apolipoprotein b (apob, 107730) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma apolipoprotein b (apob, 107730) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma esterified cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma esterified cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma free carnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma free carnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma gonadotrophin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma gonadotrophin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma lpl levels (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma lpl levels (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma lysine, glutamic acid, and glutamine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma lysine, glutamic acid, and glutamine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma serine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma serine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma total and free carnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma total and free carnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasma zinc levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasma zinc levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased plasmalogens ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased plasmalogens | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased pyruvate carboxylase (pc) activity (less than 5%) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased pyruvate carboxylase (pc) activity (less than 5%) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased red cell pyruvate kinase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased red cell pyruvate kinase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased respiratory chain complex iii activity in multiple tissues ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased respiratory chain complex iii activity in multiple tissues | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased s-ado:saicar ratio ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased s-ado:saicar ratio | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased scad activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased scad activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum acth ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum acth | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum alpha-2 macroglobulin levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum alpha-2 macroglobulin levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum c3 (atypical hus) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum c3 (atypical hus) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum carnitine in acute stage ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum carnitine in acute stage | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum cholesterol (in some) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum cholesterol (in some) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum complement factor h ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum complement factor h | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum factor h (atypical hus) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum factor h (atypical hus) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum ferritin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum ferritin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum follicle-stimulating hormone (fsh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum follicle-stimulating hormone (fsh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum haptoglobin (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum haptoglobin (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum igm ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum igm | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum insulin-like growth factor-1 (igf1, 147440) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum insulin-like growth factor-1 (igf1, 147440) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum leptin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum leptin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum levels of maoa products ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum levels of maoa products | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum luteinizing hormone (lh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum luteinizing hormone (lh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased serum thyroid-stimulating hormone (tsh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased serum thyroid-stimulating hormone (tsh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased sulfite oxidase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased sulfite oxidase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased switched memory b cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased switched memory b cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased telomere length in lymphocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased telomere length in lymphocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased testosterone level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased testosterone level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased tetrasialo-transferrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased tetrasialo-transferrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased tetrasialotransferrin levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased tetrasialotransferrin levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased thrombospondin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased thrombospondin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased thyroxine level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased thyroxine level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased tissue and serum alkaline phosphatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased tissue and serum alkaline phosphatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased tissue total and free carnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased tissue total and free carnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased triiodothyronine level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased triiodothyronine level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased ubiquinone-10 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased ubiquinone-10 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased urinary excretion of uromodulin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased urinary excretion of uromodulin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased uros activity (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased uros activity (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased very long-chain acyl-coa dehydrogenase protein and activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased very long-chain acyl-coa dehydrogenase protein and activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased von willebrand factor ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased von willebrand factor | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased whole blood serotonin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased whole blood serotonin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:decreased xanthine dehydrogenase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:decreased xanthine dehydrogenase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in chylomicron secretion ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in chylomicron secretion | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in dna repair ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in dna repair | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in double-stranded dna repair ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in double-stranded dna repair | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in mitochondrial and peroxisomal fission ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in mitochondrial and peroxisomal fission | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in n- and o-glycosylation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in n- and o-glycosylation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in oxidative phosphorylation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in oxidative phosphorylation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defect in retrograde intraflagellar transport in cilia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defect in retrograde intraflagellar transport in cilia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:defective bile acid metabolism ---
r_associated #0: 20 -->
en:calcinuria
n1=en:defective bile acid metabolism | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency of alpha-1,4-glucosidase (acid maltase) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency of alpha-1,4-glucosidase (acid maltase) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency of creatine phosphate in brain ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency of creatine phosphate in brain | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency of fat-soluble vitamins ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency of fat-soluble vitamins | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency of fructokinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency of fructokinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency of glycoprotein (gp)iib-iiia complex ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency of glycoprotein (gp)iib-iiia complex | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency or absence of cytochrome b(-245) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency or absence of cytochrome b(-245) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency or absence of p22-phox (608508) protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency or absence of p22-phox (608508) protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency or absence of p47-phox protein (type i) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency or absence of p47-phox protein (type i) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency or absence of p91-phox (300481) protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency or absence of p91-phox (300481) protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficiency or absence of p91-phox protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficiency or absence of p91-phox protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:dehydration ---
r_associated #0: 20 -->
en:calcinuria
n1=en:dehydration | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:dehydroepiandrosterone (dhea) at upper level of normal range ---
r_associated #0: 20 -->
en:calcinuria
n1=en:dehydroepiandrosterone (dhea) at upper level of normal range | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye ---
r_associated #0: 20 -->
en:calcinuria
n1=en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:depletion of mtdna (skeletal muscle, fibroblasts) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:depletion of mtdna (skeletal muscle, fibroblasts) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:dermatan sulfate excretion in urine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:dermatan sulfate excretion in urine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:detection by rt-pcr and southern blot analysis for primary diagnosis and follow up for residual disease ---
r_associated #0: 20 -->
en:calcinuria
n1=en:detection by rt-pcr and southern blot analysis for primary diagnosis and follow up for residual disease | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:dilated rough endoplasmic reticulum (rer) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:dilated rough endoplasmic reticulum (rer) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:dimethylglycine dehydrogenase (dmgdh) deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:dimethylglycine dehydrogenase (dmgdh) deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:diminished lymphocyte response to phytohemaglutinin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:diminished lymphocyte response to phytohemaglutinin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:direct hyperbilirubinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:direct hyperbilirubinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:distal xp22.3 segmental monosomy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:distal xp22.3 segmental monosomy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:echocardiogram abnormal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:echocardiogram abnormal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:electrolyte disturbances from intractable diarrhea ---
r_associated #0: 20 -->
en:calcinuria
n1=en:electrolyte disturbances from intractable diarrhea | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:electrolyturia (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:electrolyturia (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:electron microscopy of foam cells shows lamellar inclusions ---
r_associated #0: 20 -->
en:calcinuria
n1=en:electron microscopy of foam cells shows lamellar inclusions | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms ---
r_associated #0: 20 -->
en:calcinuria
n1=en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:electron microscopy of patient respiratory cells shows defects of outer dynein arms ---
r_associated #0: 20 -->
en:calcinuria
n1=en:electron microscopy of patient respiratory cells shows defects of outer dynein arms | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated 1,25(oh)2 d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated 1,25(oh)2 d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated 17-hydroxyprogesterone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated 17-hydroxyprogesterone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated 2-ketoglutarate (urine) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated 2-ketoglutarate (urine) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated 7-dehydrocholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated 7-dehydrocholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated alkaline phosphatase (if more than one affected site) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated alkaline phosphatase (if more than one affected site) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated alkaline phosphatase (in one patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated alkaline phosphatase (in one patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated alpha-ketoglutarate (in most patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated alpha-ketoglutarate (in most patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated ammonia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated ammonia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated antinuclear antibody (ana) (speckled pattern) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated antinuclear antibody (ana) (speckled pattern) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated ast and ldh, especially infantile-onset ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated ast and ldh, especially infantile-onset | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated bilirubin (bilirubinemia) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated bilirubin (bilirubinemia) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated biopterin in csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated biopterin in csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated branched-chain amino acids (in most patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated branched-chain amino acids (in most patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated catecholamines (in patients with pheochromocytoma) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated catecholamines (in patients with pheochromocytoma) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated creatine kinase (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated creatine kinase (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated crp ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated crp | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated csf glycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated csf glycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated csf/plasma glycine ratio ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated csf/plasma glycine ratio | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated dihydrobiopterin in csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated dihydrobiopterin in csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated erythrocyte adenosine deaminase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated erythrocyte adenosine deaminase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated erythrocyte adenosine deaminase (eada) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated erythrocyte adenosine deaminase (eada) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated erythrocyte adenosine deaminase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated erythrocyte adenosine deaminase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated erythrocyte aicar (zmp) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated erythrocyte aicar (zmp) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated erythrocyte sedimentation rate (mean 90mm/h) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated erythrocyte sedimentation rate (mean 90mm/h) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated fasting glucose ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated fasting glucose | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated fasting triglycerides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated fasting triglycerides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated fasting triglycerides (seen in heterozygotes as well) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated fasting triglycerides (seen in heterozygotes as well) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated ferritin l subunit ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated ferritin l subunit | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated hdl (2-6x normal) in homozygotes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated hdl (2-6x normal) in homozygotes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated hepatic transaminases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated hepatic transaminases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated il6 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated il6 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated l-2-hydroxyglutaric acid (urine) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated l-2-hydroxyglutaric acid (urine) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated lathosterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated lathosterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated liver enzymes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated liver enzymes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated liver function tests ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated liver function tests | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated liver transaminases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated liver transaminases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma and urine inorganic pyrophosphate (ppi) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma and urine inorganic pyrophosphate (ppi) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma and urine succinylacetone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma and urine succinylacetone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma branched chain amino acids (leucine, isoleucine, valine) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma branched chain amino acids (leucine, isoleucine, valine) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma cholestanol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma cholestanol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma citrulline (citrullinemia) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma citrulline (citrullinemia) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma estrogen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma estrogen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma follicle stimulating hormone (fsh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma follicle stimulating hormone (fsh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma insulin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma insulin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma luteinizing hormone (lh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma luteinizing hormone (lh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma methionine (methioninemia) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma methionine (methioninemia) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma ornithine (~10-fold) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma ornithine (~10-fold) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma phytanic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma phytanic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated plasma propionylcarnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated plasma propionylcarnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated pregnenolone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated pregnenolone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated prothrombin time ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated prothrombin time | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated resting serum lactate, increased with exercise ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated resting serum lactate, increased with exercise | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated sed rate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated sed rate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum acid phosphatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum acid phosphatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum alpha-fetoprotein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum alpha-fetoprotein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum bile acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum bile acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum glutamic oxaloacetic transaminase (sgot) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum glutamic oxaloacetic transaminase (sgot) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum glutamic pyruvic transaminase (sgpt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum glutamic pyruvic transaminase (sgpt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum insulin-to-c-peptide ratio ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum insulin-to-c-peptide ratio | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum lactate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum lactate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum levels of 2-prime deoxyadenosine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum levels of 2-prime deoxyadenosine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum long-chain fatty acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum long-chain fatty acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum parathyroid hormone (pth) level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum parathyroid hormone (pth) level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum phosphate in heterozygotes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum phosphate in heterozygotes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum transaminase levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum transaminase levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum transaminases during infections ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum transaminases during infections | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated serum transferrin saturation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated serum transferrin saturation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated sweat chloride (some) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated sweat chloride (some) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated total bilirubin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated total bilirubin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated uric acid on urinalysis (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated uric acid on urinalysis (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary 3-methylglutarate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary 3-methylglutarate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary 7 alpha-hydroxylated bile alcohols ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary 7 alpha-hydroxylated bile alcohols | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary delta-aminolevulinic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary delta-aminolevulinic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary delta-aminolevulinic acid and porphyrins ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary delta-aminolevulinic acid and porphyrins | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary free sialic acid (n-acetylneuraminic acid) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary free sialic acid (n-acetylneuraminic acid) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary hyaluronic acid levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary hyaluronic acid levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary n,n-dimethylglycine (dmg) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary n,n-dimethylglycine (dmg) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary pge(2) levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary pge(2) levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urinary phosphoethanolamine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urinary phosphoethanolamine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urine ceramide levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urine ceramide levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated urine unsulfated chondroitin sulfate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated urine unsulfated chondroitin sulfate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:elevated white blood cell cystine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:elevated white blood cell cystine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:enzyme replacement therapy has not been effective ---
r_associated #0: 20 -->
en:calcinuria
n1=en:enzyme replacement therapy has not been effective | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:eosinophilia, mild ---
r_associated #0: 20 -->
en:calcinuria
n1=en:eosinophilia, mild | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:erythroid colony-forming units show spontaneous growth in the absence of epo ---
r_associated #0: 20 -->
en:calcinuria
n1=en:erythroid colony-forming units show spontaneous growth in the absence of epo | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:excess protoporphyrin in bile and feces but not in urine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:excess protoporphyrin in bile and feces but not in urine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:exercise-induced myoglobinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:exercise-induced myoglobinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:farber lipogranulomatosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:farber lipogranulomatosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fasting chylomicronemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fasting chylomicronemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:female carriers show markedly skewed x inactivation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:female carriers show markedly skewed x inactivation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ferritin decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ferritin decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibrinogen decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibrinogen decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts accumulate dol-pp-glcnac2man5 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts accumulate dol-pp-glcnac2man5 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts attach poorly ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts attach poorly | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts demonstrate rapid growth with increased dna synthesis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts demonstrate rapid growth with increased dna synthesis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts have decreased levels of ceramide, sphingomyelin, lactosylceramide, ceramide trihexoside, and globoside | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts show decreased peroxisomes arranged in rows ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts show decreased peroxisomes arranged in rows | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts show elongated, tangled, tubular mitochondria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts show elongated, tangled, tubular mitochondria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibroblasts show increased sensitivity to apoptosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibroblasts show increased sensitivity to apoptosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fibronectin decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fibronectin decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fluorescence in situ hybridization specific probe for mds critical region ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fluorescence in situ hybridization specific probe for mds critical region | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fluorescence of red blood cells by uv microscopy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fluorescence of red blood cells by uv microscopy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:foam cells in visceral organs and cns ---
r_associated #0: 20 -->
en:calcinuria
n1=en:foam cells in visceral organs and cns | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:folate-dependent fragile site at xq28 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:folate-dependent fragile site at xq28 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:folic acid deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:folic acid deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:fumarylacetoacetate hydrolase (fah) deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:fumarylacetoacetate hydrolase (fah) deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:galactosemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:galactosemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:gamma-glutamylcysteine deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:gamma-glutamylcysteine deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system ---
r_associated #0: 20 -->
en:calcinuria
n1=en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:generalized amyloid deposition ---
r_associated #0: 20 -->
en:calcinuria
n1=en:generalized amyloid deposition | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glutaric acidemia type 1 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glutaric acidemia type 1 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glycinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glycinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glycoamino aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glycoamino aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glycogen accumulation in both liver and muscle ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glycogen accumulation in both liver and muscle | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glycogen storage disease type v ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glycogen storage disease type v | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:glycogen storage disease type vii ---
r_associated #0: 20 -->
en:calcinuria
n1=en:glycogen storage disease type vii | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:granular osmiophilic cytoplasmic deposits (grod) ultrastructurally in cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally ---
r_associated #0: 20 -->
en:calcinuria
n1=en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally ---
r_associated #0: 20 -->
en:calcinuria
n1=en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:greatly increased dopamine in plasma, urine, csf (approximately 10-fold increase) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:green serum ---
r_associated #0: 20 -->
en:calcinuria
n1=en:green serum | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:guanidinoacetate methyltransferase (gamt) deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:guanidinoacetate methyltransferase (gamt) deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hair bulbs will pigment when incubated with tyrosine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hair bulbs will pigment when incubated with tyrosine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hawkinsinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hawkinsinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hb h erythrocyte inclusions ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hb h erythrocyte inclusions | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hematuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hematuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hemizygous deletion at 7q11.23 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hemizygous deletion at 7q11.23 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hemoglobin decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hemoglobin decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hemophilia b ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hemophilia b | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:heparin cofactor ii deficiency (disorder) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:heparin cofactor ii deficiency (disorder) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hepatic carbamoylphosphate synthetase i deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hepatic carbamoylphosphate synthetase i deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hepatic gamma-cystathionase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hepatic gamma-cystathionase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hepatic glycine cleavage defect ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hepatic glycine cleavage defect | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hepatic lipase deficiency (disorder) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hepatic lipase deficiency (disorder) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hepatic ornithine transcarbamylase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hepatic ornithine transcarbamylase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hereditary fructose intolerance ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hereditary fructose intolerance | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hereditary xanthinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hereditary xanthinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:heteroplasmic partial duplication of mtdna ---
r_associated #0: 20 -->
en:calcinuria
n1=en:heteroplasmic partial duplication of mtdna | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high deoxypyridinoline/creatinine (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high deoxypyridinoline/creatinine (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high m-component ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high m-component | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high newborn serum levels of immunoreactive trypsinogen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high newborn serum levels of immunoreactive trypsinogen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high ornithine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high ornithine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high plasma citrulline (100-300 micromolar) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high plasma citrulline (100-300 micromolar) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high plasma citrulline (1000-5000 micromolar) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high plasma citrulline (1000-5000 micromolar) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high resolution g- and t- banding karyotype shows reciprocal translocation of distal 9p-6q | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high urinary excretion of inosine, 2'deoxyinosine, guanosine, and 2'deoxyguanosine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:high-normal plasma triglyceride concentration (in heterozygotes) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:high-normal plasma triglyceride concentration (in heterozygotes) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hla-b27 haplotype association (95% patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hla-b27 haplotype association (95% patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hla-dqw6 association (dqb1*0602) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hla-dqw6 association (dqb1*0602) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:holocarboxylase synthetase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:holocarboxylase synthetase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:homocysteinemia (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:homocysteinemia (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperammonemia, asymptomatic (2-5 times normal) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperammonemia, asymptomatic (2-5 times normal) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperarginemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperarginemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperbilirubinemia in those with liver failure ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperbilirubinemia in those with liver failure | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperbilirubinemia, unconjugated, <20mg/dl ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperbilirubinemia, unconjugated, <20mg/dl | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypercalciuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypercalciuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypercholesterolemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypercholesterolemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypercholesterolemia (disorder) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypercholesterolemia (disorder) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypercholesterolemia (reported in 2 patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypercholesterolemia (reported in 2 patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperglycemias, postprandial ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperglycemias, postprandial | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperglycinemia (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperglycinemia (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperglycinuria (disorder) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperglycinuria (disorder) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperglycolic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperglycolic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperhomocystinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperhomocystinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperinsulinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperinsulinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperinsulinemic hypoglycemia, familial, 7 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperinsulinemic hypoglycemia, familial, 7 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperkalemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperkalemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperkalemia (5.8 +/- 0.8 mm) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperkalemia (5.8 +/- 0.8 mm) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperkalemia (7.5 +/- 0.9 mm) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperkalemia (7.5 +/- 0.9 mm) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperkalemia (>6.2 mm in both dominant and recessive) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperkalemia (>6.2 mm in both dominant and recessive) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperlactemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperlactemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperlipidemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperlipidemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperlipoproteinemia type i ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperlipoproteinemia type i | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperoxaluria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperoxaluria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperprolinemia (10-15 times normal) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperprolinemia (10-15 times normal) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperprolinemia type 1 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperprolinemia type 1 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperprostaglandinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperprostaglandinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypertriglyceridemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypertriglyceridemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypertriglyceridemia (rare) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypertriglyceridemia (rare) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypertriglyceridemia, transient ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypertriglyceridemia, transient | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypertryptophanemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypertryptophanemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperuricemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperuricemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyperuricuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyperuricuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoalbuminemia (in 83%) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoalbuminemia (in 83%) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypobetalipoproteinemias ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypobetalipoproteinemias | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypocalcemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypocalcemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypocalcemia (male) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypocalcemia (male) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypocalcemia, transient ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypocalcemia, transient | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypocalciuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypocalciuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypocalciuria or normocalciuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypocalciuria or normocalciuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypocitraturia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypocitraturia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoglycemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoglycemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoglycosylation of plasma glycoproteins ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoglycosylation of plasma glycoproteins | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypokalemia during attacks ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypokalemia during attacks | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypokalemia occurs during paralytic attacks ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypokalemia occurs during paralytic attacks | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoketotic dicarboxylic aciduria (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoketotic dicarboxylic aciduria (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoketotic hypoglycemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoketotic hypoglycemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypomagnesemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypomagnesemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypomethylation of alpha-satellite repeats on chromosome 9 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypomethylation of alpha-satellite repeats on chromosome 9 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypomethylation of satellite repeats on chromosome 1, 9, and 16 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypomethylation of satellite repeats on chromosome 1, 9, and 16 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyponatremic dehydration, rarely ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyponatremic dehydration, rarely | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypophosphatemia (less common) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypophosphatemia (less common) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoproteinemia (in 1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoproteinemia (in 1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hyposthenuria (inability to concentrate urine normally) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hyposthenuria (inability to concentrate urine normally) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypouricemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypouricemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoxemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoxemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:hypoxia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:hypoxia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:i-cell disease ---
r_associated #0: 20 -->
en:calcinuria
n1=en:i-cell disease | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:iga antiendomysial antibodies (ema) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:iga antiendomysial antibodies (ema) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:igg deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:igg deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:igg, decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:igg, decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:igm deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:igm deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:iiga and igg antigliadin antibodies (aga) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:iiga and igg antigliadin antibodies (aga) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:immotile cilia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:immotile cilia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:impaired creatine uptake in fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:impaired creatine uptake in fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise ---
r_associated #0: 20 -->
en:calcinuria
n1=en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:impaired mitochondrial translation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:impaired mitochondrial translation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:impaired n-glycosylation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:impaired n-glycosylation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:impaired response to gm-csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:impaired response to gm-csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:impairment of urinary concentration ---
r_associated #0: 20 -->
en:calcinuria
n1=en:impairment of urinary concentration | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:inactive mutant form of red cell carbonic anhydrase b in one sibship ---
r_associated #0: 20 -->
en:calcinuria
n1=en:inactive mutant form of red cell carbonic anhydrase b in one sibship | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:inappropriately normal serum 1,25-dihydroxyvitamin d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:inappropriately normal serum 1,25-dihydroxyvitamin d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increase urinary excretion of lysine, arginine, and ornithine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increase urinary excretion of lysine, arginine, and ornithine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased 11-deoxycorticosterone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased 11-deoxycorticosterone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased 18-oxocortisol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased 18-oxocortisol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased acetoacetate: beta-hydroxybutyrate ratio (group b) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased acetoacetate: beta-hydroxybutyrate ratio (group b) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased acetylcholinesterase (ache) in amniotic fluid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased acetylcholinesterase (ache) in amniotic fluid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased activity of the prpp synthetase 1 enzyme ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased activity of the prpp synthetase 1 enzyme | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased alpha-fetoprotein (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased alpha-fetoprotein (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased ammonia with exercise ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased ammonia with exercise | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased bile acid intermediates (dhca and thca) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased bile acid intermediates (dhca and thca) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased biliverdin in bodily fluids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased biliverdin in bodily fluids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased blood alanine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased blood alanine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased bone serum acid phosphatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased bone serum acid phosphatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased bone-specific alkaline phosphatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased bone-specific alkaline phosphatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased cellular sensitivity to uv light ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased cellular sensitivity to uv light | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased cerebrospinal fluid (csf) protein (>100mg/dl) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased cerebrospinal fluid (csf) protein (>100mg/dl) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased circulating renin level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased circulating renin level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased creatine kinase, mild to moderate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased creatine kinase, mild to moderate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased cross-linked c-terminal telopeptide of type i collagen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased cross-linked c-terminal telopeptide of type i collagen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf 3-methoxytyrosine (3-mt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf 3-methoxytyrosine (3-mt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf and plasma ghb ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf and plasma ghb | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf interferon ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf interferon | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf protein during acute illness ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf protein during acute illness | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf pyruvic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf pyruvic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf threonine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf threonine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf transferrin despite normal serum transferrin levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf transferrin despite normal serum transferrin levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf, plasma, and urinary 3-ortho-methyldopa (3-omd) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased csf, plasma, and urinary l-dopa ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased csf, plasma, and urinary l-dopa | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased di- and asialo-transferrin characteristic of type 1 pattern ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased di- and asialo-transferrin characteristic of type 1 pattern | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased disialo- and asialotransferrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased disialo- and asialotransferrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased erythrocyte sedimentation rate, episodic ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased erythrocyte sedimentation rate, episodic | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased ferritin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased ferritin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased fractional excretion of urate (greater than 50%) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased fractional excretion of urate (greater than 50%) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased free erythrocyte protoporphyrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased free erythrocyte protoporphyrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased gamma-interferon ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased gamma-interferon | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased growth hormone (in 1 of 2 patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased growth hormone (in 1 of 2 patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased histidine in blood, urine, and csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased histidine in blood, urine, and csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased il18 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased il18 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased il6, episodic ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased il6, episodic | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased interleukin 10 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased interleukin 10 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased intracellular fmrp mrna ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased intracellular fmrp mrna | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased lactate: pyruvate ratio (group b) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased lactate: pyruvate ratio (group b) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased level of globotriaosylceramide (gb3) in plasma and urinary sediment | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased levels of 3-alpha-7-alpha-12-alpha-trihydroxy-5-beta-cholestanoic acid (thca) in bile, urine, and serum | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased nasal-potential difference (1 of 3 patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased nasal-potential difference (1 of 3 patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased peripheral blood monocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased peripheral blood monocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased phytanic acid in body tissues and fluids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased phytanic acid in body tissues and fluids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma 2-methylbutyrylcarnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma 2-methylbutyrylcarnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma branched-chain fatty acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma branched-chain fatty acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma free cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma free cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma homogentisic acid (hga) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma homogentisic acid (hga) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma levels of very long-chain fatty acids (vlcfa) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma levels of very long-chain fatty acids (vlcfa) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma long-chain acylcarnitines ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma long-chain acylcarnitines | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma phytanic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma phytanic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma pipecolic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma pipecolic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma pristanic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma pristanic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma progastrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma progastrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma proglucagon ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma proglucagon | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma proinsulin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma proinsulin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased plasma vldl, ldl ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased plasma vldl, ldl | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased pyruvate in serum and csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased pyruvate in serum and csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased rai (radioactive iodine) uptake ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased rai (radioactive iodine) uptake | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased sensitivity to adrenergic and cholinergic agents ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased sensitivity to adrenergic and cholinergic agents | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum 18-hydroxycorticosterone (18-ohb) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum 18-hydroxycorticosterone (18-ohb) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum acyl carnitines ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum acyl carnitines | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum alanine (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum alanine (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum alkaline phosphatase (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum alkaline phosphatase (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum alkaline phosphatase activity of skeletal origin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum alkaline phosphatase activity of skeletal origin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum alpha-interferon (ifna1, 147660) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum alpha-interferon (ifna1, 147660) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum ammonia (group b) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum ammonia (group b) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum and cerebrospinal fluid levels of pipecolic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum and cerebrospinal fluid levels of pipecolic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum and urinary 2-oxoglutarate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum and urinary 2-oxoglutarate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum aryl-sulfatase a (10-20x) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum aryl-sulfatase a (10-20x) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum arylsulfatase a. ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum arylsulfatase a. | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum beta-carotene ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum beta-carotene | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum beta-hexosaminidase (10-20x) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum beta-hexosaminidase (10-20x) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum c-reactive protein, episodic ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum c-reactive protein, episodic | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum c26-bile-acid intermediates ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum c26-bile-acid intermediates | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum c4 and c5 acylcarnitine esters ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum c4 and c5 acylcarnitine esters | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum cholesterol (in 3 of 10 patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum cholesterol (in 3 of 10 patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum citrulline (group b) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum citrulline (group b) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum creatine kinase (1 family) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum creatine kinase (1 family) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum creatine kinase (less common) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum creatine kinase (less common) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum creatine kinase during episodes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum creatine kinase during episodes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum deoxyuridine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum deoxyuridine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum direct bilirubin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum direct bilirubin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum erythropoietin (epo, 133170) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum erythropoietin (epo, 133170) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum ferritin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum ferritin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum ferritin (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum ferritin (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum fgf23 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum fgf23 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum gamma-ggt (231950) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum gamma-ggt (231950) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum glycine, leucine, isoleucine, valine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum glycine, leucine, isoleucine, valine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum gm-csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum gm-csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum iduronate sulfatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum iduronate sulfatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum iduronate sulfatase (10-20x) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum iduronate sulfatase (10-20x) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lactate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lactate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lactate (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lactate (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lactate (mild) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lactate (mild) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lactate during metabolic crisis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lactate during metabolic crisis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lactate in acute stage ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lactate in acute stage | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lactate, particularly after exercise ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lactate, particularly after exercise | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum levels of free plasma thyroid hormones ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum levels of free plasma thyroid hormones | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum lipoproteins ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum lipoproteins | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum methionine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum methionine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum pancreatic secretory trypsin inhibitor (psti) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum pancreatic secretory trypsin inhibitor (psti) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum pyruvate, mild ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum pyruvate, mild | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum s-adenosylmethionine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum s-adenosylmethionine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum serotonin in 25% ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum serotonin in 25% | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum thyroid-stimulating hormone (tsh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum thyroid-stimulating hormone (tsh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum total cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum total cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum transaminases (in 1 of 3 patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum transaminases (in 1 of 3 patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum transferrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum transferrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum triglycerides (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum triglycerides (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum triiodothyronine (t3) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum triiodothyronine (t3) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum vascular endothelial growth factor (vegf, 192240) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum vascular endothelial growth factor (vegf, 192240) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum vitamin b12 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum vitamin b12 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased serum, urinary, and csf saccharopine (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased serum, urinary, and csf saccharopine (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased soluble il2 receptor ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased soluble il2 receptor | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased succinyladenosine (s-ado) in serum, urine, and csf ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased succinyladenosine (s-ado) in serum, urine, and csf | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased succinylaminoimidazole carboxamide ribotide (saicar) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased succinylaminoimidazole carboxamide ribotide (saicar) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased susceptibility to ebv infection ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased susceptibility to ebv infection | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased tissue levels of free fatty acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased tissue levels of free fatty acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased tissue levels of triglycerides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased tissue levels of triglycerides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased tissue long-chain acylcarnitines ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased tissue long-chain acylcarnitines | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased total bilirubin may occur ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased total bilirubin may occur | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased triglycerides (less common) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased triglycerides (less common) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased uracil and dihydrouracil in bodily fluids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased uracil and dihydrouracil in bodily fluids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased uric acid with exercise ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased uric acid with exercise | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 2-hydroxybutyrate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 2-hydroxybutyrate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 2-ketoglutarate (variable) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 2-ketoglutarate (variable) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 2-methyl-3 hydroxybutyrate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 2-methyl-3 hydroxybutyrate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 2-methylacetoacetic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 2-methylacetoacetic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 2-methylbutyryl glycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 2-methylbutyryl glycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 3-methylcrotonylglycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 3-methylcrotonylglycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 3-oh-butyric acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 3-oh-butyric acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary 7-biopterin (primapterin) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary 7-biopterin (primapterin) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary adenosine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary adenosine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary alpha-ketoglutaric acid, intermittent ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary alpha-ketoglutaric acid, intermittent | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary and serum glycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary and serum glycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary carnitine esters ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary carnitine esters | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary catecholamines (with pheochromocytoma) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary catecholamines (with pheochromocytoma) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary citric acid cycle intermediates ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary citric acid cycle intermediates | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary creatine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary creatine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary creatine-to-creatinine ratio ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary creatine-to-creatinine ratio | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary disaccharides (mannosyl-n-acetylglucosamine) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary disaccharides (mannosyl-n-acetylglucosamine) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary dopamine and dopamine metabolites (paradoxical) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary dopamine and dopamine metabolites (paradoxical) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary excretion of camp ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary excretion of camp | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary excretion of coproporphyrin i ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary excretion of coproporphyrin i | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary excretion of gamma-aminobutyric acid (gaba) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary excretion of gamma-aminobutyric acid (gaba) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary excretion of l-xylulose ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary excretion of l-xylulose | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary formiminoglutamic acid (figlu) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary formiminoglutamic acid (figlu) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary fumaric acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary fumaric acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary glutaric acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary glutaric acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary glycerol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary glycerol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary hga ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary hga | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary isobutyryl glycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary isobutyryl glycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary lactate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary lactate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary levels of maoa substrates (endogenous bioamines) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary levels of maoa substrates (endogenous bioamines) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary mannose-containing oligosaccharides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary mannose-containing oligosaccharides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary n-acetylated amino acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary n-acetylated amino acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary o-linked sialopeptides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary o-linked sialopeptides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary orotic acid (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary orotic acid (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary oxylate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary oxylate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary phospholipids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary phospholipids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary porphyrin precursors porphobilinogen (pbg) and delta-aminolevulinic acid (ala) during acute attacks | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary potassium ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary potassium | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary s-sulfocysteine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary s-sulfocysteine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary taurine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary taurine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary thiosulfate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary thiosulfate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary uracil ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary uracil | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary, plasma, and csf dihydrothymine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary, plasma, and csf dihydrothymine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary, plasma, and csf dihydrouracil ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary, plasma, and csf dihydrouracil | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary, plasma, and csf n-carbamyl-beta-alanine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary, plasma, and csf n-carbamyl-beta-alanine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased urinary, plasma, and csf n-carbamyl-beta-aminoisobutyric acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:increased very-long chain fatty acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:increased very-long chain fatty acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:incresased urinary pyruvate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:incresased urinary pyruvate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:inner and outer dynein arm defects, variable ---
r_associated #0: 20 -->
en:calcinuria
n1=en:inner and outer dynein arm defects, variable | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intermittent 3-methylglutaconic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intermittent 3-methylglutaconic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intermittent dicarbonic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intermittent dicarbonic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intermittent ethylmalonic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intermittent ethylmalonic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intermittent increase of urinary ethylmalonic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intermittent increase of urinary ethylmalonic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intermittent severe hypoglycemia (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intermittent severe hypoglycemia (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intracellular fingerprint profiles on ultrastructural analysis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intracellular fingerprint profiles on ultrastructural analysis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intracellular glycosphingolipid deposition in all tissues of the body ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intracellular glycosphingolipid deposition in all tissues of the body | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b)) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b)) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:iron binding capacity total increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:iron binding capacity total increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:iron deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:iron deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:iron low ---
r_associated #0: 20 -->
en:calcinuria
n1=en:iron low | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:irregularly shaped sperm heads ---
r_associated #0: 20 -->
en:calcinuria
n1=en:irregularly shaped sperm heads | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:isochromosome 12p (i(12p)) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:isochromosome 12p (i(12p)) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:isovaleric acidemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:isovaleric acidemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:isovalerylglycinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:isovalerylglycinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:karyomegaly may be found in other visceral organs ---
r_associated #0: 20 -->
en:calcinuria
n1=en:karyomegaly may be found in other visceral organs | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:karyotype analysis normal finding ---
r_associated #0: 20 -->
en:calcinuria
n1=en:karyotype analysis normal finding | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:keratan sulfate excretion in urine that decreases with age ---
r_associated #0: 20 -->
en:calcinuria
n1=en:keratan sulfate excretion in urine that decreases with age | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ketoacidosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ketoacidosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ketonuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ketonuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ketonuria (1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ketonuria (1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ketonuria, acute ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ketonuria, acute | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:kypokalemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:kypokalemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:laboratory abnormalities ---
r_associated #0: 20 -->
en:calcinuria
n1=en:laboratory abnormalities | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lack of ciliary motility ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lack of ciliary motility | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lack of excessive parenchymal iron storage ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lack of excessive parenchymal iron storage | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lack of lysosomal inclusions in visceral organs ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lack of lysosomal inclusions in visceral organs | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lactate dehydrogenase increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lactate dehydrogenase increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lactic acidemia (2p21del) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lactic acidemia (2p21del) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:leukocytosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:leukocytosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lipid vacuoles in leukocytes (jordan bodies) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lipid vacuoles in leukocytes (jordan bodies) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lipopigment in extraneuronal cells ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lipopigment in extraneuronal cells | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:little to absent aspartylglucosaminuria activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:little to absent aspartylglucosaminuria activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:liver transaminases normal to slightly increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:liver transaminases normal to slightly increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:long-chain dicarboxylic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:long-chain dicarboxylic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low 25-oh-vitamin d level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low 25-oh-vitamin d level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low absolute lymphocyte count ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low absolute lymphocyte count | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low acth level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low acth level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low alkaline phosphatase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low alkaline phosphatase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low apolipoprotein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low apolipoprotein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low cholesterol esterification rates ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low cholesterol esterification rates | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low csf creatinine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low csf creatinine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low density lipoprotein increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low density lipoprotein increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low fasting glucose (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low fasting glucose (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low free carnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low free carnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low growth hormone levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low growth hormone levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low levels of cd11/cd18 (lfa-1 or leukocyte function antigen-1) glycoprotein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low levels of serum mg(2+) in the absence of other electrolyte disturbances ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low levels of serum mg(2+) in the absence of other electrolyte disturbances | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or absent adrenocorticotropic hormone (acth) in some patients ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or absent adrenocorticotropic hormone (acth) in some patients | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or absent follicle stimulating hormone (fsh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or absent follicle stimulating hormone (fsh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or absent igm levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or absent igm levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or absent prolactin (pl) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or absent prolactin (pl) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or normal serum calcium ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or normal serum calcium | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or normal serum igm ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or normal serum igm | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low or undetectable c-peptide ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low or undetectable c-peptide | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low plasma arginine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low plasma arginine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low plasma citrulline ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low plasma citrulline | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low plasma free and total carnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low plasma free and total carnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low plasma methionine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low plasma methionine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low plasma triglyceride level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low plasma triglyceride level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low plasma tryptophan (inflammatory type b) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low plasma tryptophan (inflammatory type b) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low pyruvate carboxylase activity in liver and cultured fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low pyruvate carboxylase activity in liver and cultured fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low rai (radioactive iodine) uptake ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low rai (radioactive iodine) uptake | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum acth ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum acth | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum alpha-fetoprotein (recessive) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum alpha-fetoprotein (recessive) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum calcium ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum calcium | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum concentration of intercellular adhesion molecule 1 (icam1) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum concentration of intercellular adhesion molecule 1 (icam1) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum levels of branched-chain amino acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum levels of branched-chain amino acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum levels of ketone bodies ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum levels of ketone bodies | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low serum uric acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low serum uric acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low to absent apo a-i (detroit 107680.0011) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low to absent apo a-i (detroit 107680.0011) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low to absent high density lipoprotein (hdl) (detroit 107680.0011) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low to absent high density lipoprotein (hdl) (detroit 107680.0011) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low to normal plasma methionine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low to normal plasma methionine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low to normal tsh (values may vary depending on the measurement methods used) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low to normal tsh (values may vary depending on the measurement methods used) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low urinary cyclic amp response to pth administration ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low urinary cyclic amp response to pth administration | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low urinary excretion of neutral 17-ketosteroids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low urinary excretion of neutral 17-ketosteroids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low urinary orotic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low urinary orotic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low-normal igm ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low-normal igm | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low-normal platelet count (89-290 x 10(9)/l) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low-normal platelet count (89-290 x 10(9)/l) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low-to-normal csf lactate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low-to-normal csf lactate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:low-to-normal platelet count ---
r_associated #0: 20 -->
en:calcinuria
n1=en:low-to-normal platelet count | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lower total cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lower total cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lysosomal-like storage vacuoles in various tissues ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lysosomal-like storage vacuoles in various tissues | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lysyl hydroxylase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lysyl hydroxylase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:lysyl pyridinoline/hydroxylysyl pyridinoline (lp/hp) ratio approximately 1 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:march myoglobinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:march myoglobinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:marked elevation of erythrocyte sedimentation rate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:marked elevation of erythrocyte sedimentation rate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:marked elevation of serum c-reactive protein level (crp 123260) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:marked elevation of serum c-reactive protein level (crp 123260) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:markedly increased serum creatine kinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:markedly increased serum creatine kinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:markedly reduced iga levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:markedly reduced iga levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:may have increased serum parathyroid hormone (pth) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:may have increased serum parathyroid hormone (pth) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:median mean platelet volume (mpv) 12.5fl ---
r_associated #0: 20 -->
en:calcinuria
n1=en:median mean platelet volume (mpv) 12.5fl | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:median mean platelet volume (mpv) 18fl ---
r_associated #0: 20 -->
en:calcinuria
n1=en:median mean platelet volume (mpv) 18fl | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:metabolic acidosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:metabolic acidosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs ---
r_associated #0: 20 -->
en:calcinuria
n1=en:metachromatic deposits (sulfatide-containing) in central and peripheral nervous systems and visceral organs | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:metachromatic leukodystrophy due to saposin b deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:metachromatic leukodystrophy due to saposin b deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:methionine adenosyltransferase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:methionine adenosyltransferase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:methioninuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:methioninuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:methylenetetrahydrofolate reductase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:methylenetetrahydrofolate reductase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:methylmalonic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:methylmalonic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:methylsuccinic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:methylsuccinic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:microdeletion 22q11.2 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:microdeletion 22q11.2 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:microduplication of chromosome 5p13 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:microduplication of chromosome 5p13 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:microscopic hematuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:microscopic hematuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:microtubule disorganization in some cilia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:microtubule disorganization in some cilia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mild elevation of cholesterol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mild elevation of cholesterol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mild elevation of transaminases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mild elevation of transaminases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mild elevation of triglycerides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mild elevation of triglycerides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mild eosinophilia may occur ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mild eosinophilia may occur | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mild-moderate prolonged bleeding time ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mild-moderate prolonged bleeding time | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mildly abnormal glycosylation of serum transferrin, type 1 pattern ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mildly abnormal glycosylation of serum transferrin, type 1 pattern | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mildly decreased phosphaturic response to pth administration has been reported in some cases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mildly decreased phosphaturic response to pth administration has been reported in some cases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mildly elevated creatine phosphokinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mildly elevated creatine phosphokinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mildly elevated hepatic enzymes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mildly elevated hepatic enzymes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mildly elevated transaminases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mildly elevated transaminases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mildly elevated urinary mevalonic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mildly elevated urinary mevalonic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mitochondrial deletions ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mitochondrial deletions | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mitochondrial respiratory chain defects (skeletal muscle, fibroblasts) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mitotic lymphocyte and fibroblast cultures show mosaic variegated aneuploidy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:moderate to severe thrombocytopenia (30-90 x 10(9)/l) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:moderate to severe thrombocytopenia (30-90 x 10(9)/l) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:moderately decreased to normal phk activity in skeletal muscle ---
r_associated #0: 20 -->
en:calcinuria
n1=en:moderately decreased to normal phk activity in skeletal muscle | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:molybdenum cofactor deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:molybdenum cofactor deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:multi-tailed spermatozoa ---
r_associated #0: 20 -->
en:calcinuria
n1=en:multi-tailed spermatozoa | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:multiple autoantibodies ---
r_associated #0: 20 -->
en:calcinuria
n1=en:multiple autoantibodies | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:multiple organs (lung, liver, spleen, kidney, brain) contain foamy resident cells and histiocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology ---
r_associated #0: 20 -->
en:calcinuria
n1=en:mutant mtdna threonine transfer rna gene (mttt, 590090) of questionable etiology | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:myoglobinuria (reported in 1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:myoglobinuria (reported in 1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:n-acetylgalactosamine-6-sulfatase deficiency in fibroblasts and leukocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:nadh-cytochrome b(5) reductase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:nadh-cytochrome b(5) reductase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:near-complete absence of vldl peak on density gradient ultracentrifugation (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:neonatal hyperbilirubinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:neonatal hyperbilirubinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:neutropenia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:neutropenia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:neutropenia (in 1 patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:neutropenia (in 1 patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no chromosomal breakage ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no chromosomal breakage | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no chromosome breakage ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no chromosome breakage | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no elevation of free fatty acids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no elevation of free fatty acids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no evidence of common prenatal infections ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no evidence of common prenatal infections | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no evidence of perinatal infection ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no evidence of perinatal infection | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no histochemical evidence of mitochondrial myopathy. ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no histochemical evidence of mitochondrial myopathy. | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no increase in urinary cyclic amp (camp) in response to vasopressin or ddavp | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no ketonuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no ketonuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no ketosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no ketosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:no metabolic abnormalities ---
r_associated #0: 20 -->
en:calcinuria
n1=en:no metabolic abnormalities | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal aldosterone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal aldosterone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal arterial oxygen saturation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal arterial oxygen saturation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal baseline cortisol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal baseline cortisol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal blood lactate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal blood lactate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal calcium (female) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal calcium (female) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal cd8+/cd4+ ratio ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal cd8+/cd4+ ratio | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal cerebrospinal fluid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal cerebrospinal fluid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal ciliary structure and function ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal ciliary structure and function | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal collagen type i studies ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal collagen type i studies | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal complex ii activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal complex ii activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal concentration of parathyroid hormone ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal concentration of parathyroid hormone | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal csf 5-hiaa ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal csf 5-hiaa | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal csf neurotransmitters ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal csf neurotransmitters | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal dermal hydroxylysine content ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal dermal hydroxylysine content | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal eosinophil peroxidase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal eosinophil peroxidase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal erythrocyte gs activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal erythrocyte gs activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal exocrine pancreatic function ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal exocrine pancreatic function | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal extrarenal responses to ddavp administration ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal extrarenal responses to ddavp administration | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal g(s)-alpha levels (139320) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal g(s)-alpha levels (139320) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal growth hormone responses to arginine, l-dopa, and propranolol stimulation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal igg levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal igg levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal igm levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal igm levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal isoelectric focusing of apolipoprotein ciii ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal isoelectric focusing of apolipoprotein ciii | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal isoelectric focusing of serum transferrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal isoelectric focusing of serum transferrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal leukocyte and platelet counts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal leukocyte and platelet counts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal levels of complement factor h, but impaired function ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal levels of complement factor h, but impaired function | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal lysosomal hydrolases ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal lysosomal hydrolases | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal lysyl oxidase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal lysyl oxidase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal male karyotype (46,xy) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal male karyotype (46,xy) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal maltase, isomaltase, and sucrase activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal maltase, isomaltase, and sucrase activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal mitochondrial respiratory chain complex i-v (hcs) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal mitochondrial respiratory chain complex i-v (hcs) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or decreased serum potassium ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or decreased serum potassium | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or increased levels of serum arginine vasopressin (antidiuretic hormone, 192340) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or increased serum creatine kinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or increased serum creatine kinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or increased serum phytanic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or increased serum phytanic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or increased urinary cyclic amp response to pth administration ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or increased urinary cyclic amp response to pth administration | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or mildly decreased arylsulfatase a activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or mildly decreased arylsulfatase a activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or mildly increased serum creatine kinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or mildly increased serum creatine kinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or mildly increased serum gamma-ggt (231950) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or mildly increased serum gamma-ggt (231950) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or mildly increased serum gamma-glutamyltransferase (ggt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or mildly increased serum gamma-glutamyltransferase (ggt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or mildly increased thyroid-stimulating hormone (tsh) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or mildly increased thyroid-stimulating hormone (tsh) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal or mildly reduced serum cobalamin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal or mildly reduced serum cobalamin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal phytanic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal phytanic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal plasma and tissue carnitine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal plasma and tissue carnitine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal plasma phytanic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal plasma phytanic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal plasma renin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal plasma renin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal platelet aggregation response to epinephrine, arachidonic acid (aa), adenosine 5'-diphosphate (adp), collagen, and ristocetin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal platelet aggregation with adp, collagen, epinephrine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal platelet aggregation with adp, collagen, epinephrine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal renin level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal renin level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal sedimentation rate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal sedimentation rate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum 1,25-dihydroxyvitamin d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum 1,25-dihydroxyvitamin d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum 25-hydroxyvitamin d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum 25-hydroxyvitamin d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum cobalamin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum cobalamin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum creatine kinase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum creatine kinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum erythropoietin (epo, 133170) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum erythropoietin (epo, 133170) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum folate levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum folate levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum lipoprotein levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum lipoprotein levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum parathyroid hormone (pth) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum parathyroid hormone (pth) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal serum transferrin profiles ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal serum transferrin profiles | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal to increased plasma glycine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal to increased plasma glycine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal to increased plasma threonine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal to increased plasma threonine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal to mildly increased mucopolysacchariduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal to mildly increased mucopolysacchariduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal to mildly increased serum parathyroid hormone (pth) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal to mildly increased serum parathyroid hormone (pth) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal to prolonged bleeding time ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal to prolonged bleeding time | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal total urinary coproporphyrin ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal total urinary coproporphyrin | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal urinary 17-ketosteroids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal urinary 17-ketosteroids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal urinary orotic acid ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal urinary orotic acid | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normal urinary pterins ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normal urinary pterins | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:normocalcemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:normocalcemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:oestradiol decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:oestradiol decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:organic aciduria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:organic aciduria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ornithine-delta-aminotransferase (oat) deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ornithine-delta-aminotransferase (oat) deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pancreatic trypsinogen deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pancreatic trypsinogen deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration ---
r_associated #0: 20 -->
en:calcinuria
n1=en:paradoxical increase or no change in serum aldosterone and blood pressure after dexamethasone administration | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:paradoxical increased cortisol secretion on dexamethasone suppression test ---
r_associated #0: 20 -->
en:calcinuria
n1=en:paradoxical increased cortisol secretion on dexamethasone suppression test | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:paraproteinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:paraproteinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:parathyroid hormone (pth) absent to low ---
r_associated #0: 20 -->
en:calcinuria
n1=en:parathyroid hormone (pth) absent to low | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:parathyroid hormone-related peptide (pthrp) absent to low ---
r_associated #0: 20 -->
en:calcinuria
n1=en:parathyroid hormone-related peptide (pthrp) absent to low | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:partial deficiency of factor xii(c) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:partial deficiency of factor xii(c) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:partial deletion of long arm of chromosome 11 (11q23-qter) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:partial deletion of long arm of chromosome 11 (11q23-qter) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:partial terminal deletion of short arm of chromosome 1 (1p36) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:partial terminal deletion of short arm of chromosome 1 (1p36) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair ---
r_associated #0: 20 -->
en:calcinuria
n1=en:patient cells show a defect in transcription-coupled and global genome nucleotide excision repair | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:patients have supernumerary chromosome - 47,xx(or xy), +der(22), +(11:22)(q23:q11) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit ---
r_associated #0: 20 -->
en:calcinuria
n1=en:patients with factor xiii alpha subunit deficiency usually also have decreased levels of plasma factor xiii beta subunit | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pentagastrin stimulation test ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pentagastrin stimulation test | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects ---
r_associated #0: 20 -->
en:calcinuria
n1=en:percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:persistent ebv viremia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:persistent ebv viremia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phosphate normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phosphate normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phosphaturia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phosphaturia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phospholipid antibody positive ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phospholipid antibody positive | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phosphorylase kinase deficiency in liver and muscle ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phosphorylase kinase deficiency in liver and muscle | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phosphorylase kinase normal in muscle ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phosphorylase kinase normal in muscle | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phytanic acid accumulation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phytanic acid accumulation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:phytanic acid increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:phytanic acid increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pipecolic acidemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pipecolic acidemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:plasma aldosterone increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:plasma aldosterone increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:plasma aldosterone normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:plasma aldosterone normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:plasma protein c deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:plasma protein c deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:plasma triglycerides increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:plasma triglycerides increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:platelet antibody positive ---
r_associated #0: 20 -->
en:calcinuria
n1=en:platelet antibody positive | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:platelet factor 4 decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:platelet factor 4 decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:platelet function test normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:platelet function test normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pms excrete 10 to 200 times less metabolite in urine than wildtype (em) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:poor anticoagulant response to exogenous activated protein c as measured by the activated partial thromboplastin time (aptt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:positive antinuclear antibody test ---
r_associated #0: 20 -->
en:calcinuria
n1=en:positive antinuclear antibody test | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:positive urinary bratton-marshall test ---
r_associated #0: 20 -->
en:calcinuria
n1=en:positive urinary bratton-marshall test | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:predominance of the d-stereoisomer ---
r_associated #0: 20 -->
en:calcinuria
n1=en:predominance of the d-stereoisomer | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pregnant mothers of affected children have decreased plasma and urinary estrogen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pregnant mothers of affected children have decreased plasma and urinary estrogen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:premature centromere division (pcd) of the x chromosome observed in cultured lymphocytes during metaphase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:premature chromosome condensation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:premature chromosome condensation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:presence of glial fibrillary acidic proteins (gfap) in astrocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:presence of glial fibrillary acidic proteins (gfap) in astrocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients ---
r_associated #0: 20 -->
en:calcinuria
n1=en:presence of the philadelphia chromosome (translocation of 9q34 and 22q11) in greater than 95% of patients | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:primary immunoglobulin-related amyloidosis (al) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:primary immunoglobulin-related amyloidosis (al) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolonged activated partial prothrombin time (appt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolonged activated partial prothrombin time (appt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolonged bleeding time (10 - >30 minutes) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolonged bleeding time (10 - >30 minutes) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolonged partial thromboplastin time ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolonged partial thromboplastin time | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolonged partial thromboplastin time (ptt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolonged partial thromboplastin time (ptt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolonged prothrombin and partial thromboplastin times ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolonged prothrombin and partial thromboplastin times | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prolonged prothrombin time (pt) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prolonged prothrombin time (pt) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prominent leukocytosis (30,000/ml) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prominent leukocytosis (30,000/ml) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:proper antibody response to protein vaccinations ---
r_associated #0: 20 -->
en:calcinuria
n1=en:proper antibody response to protein vaccinations | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:protein c decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:protein c decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:protein total decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:protein total decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:protein urine absent ---
r_associated #0: 20 -->
en:calcinuria
n1=en:protein urine absent | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:proteinuria (type ii, congenital) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:proteinuria (type ii, congenital) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:prothrombin time increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:prothrombin time increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pseudohyperkalemia, due to ex vivo efflux of potassium from red cells (in some patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pseudohypertriglyceridemia in adult form ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pseudohypertriglyceridemia in adult form | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pyrimidinuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pyrimidinuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:pyruvate-induced insulin secretion ---
r_associated #0: 20 -->
en:calcinuria
n1=en:pyruvate-induced insulin secretion | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:raised c-reactive protein ---
r_associated #0: 20 -->
en:calcinuria
n1=en:raised c-reactive protein | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:raised tsh level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:raised tsh level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:rapid high rai (radioactive iodine) uptake and turnover ---
r_associated #0: 20 -->
en:calcinuria
n1=en:rapid high rai (radioactive iodine) uptake and turnover | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate ---
r_associated #0: 20 -->
en:calcinuria
n1=en:rapid radioactive iodide (rai) discharge after thiocyanate or perchlorate | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reactive hypoglycemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reactive hypoglycemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced aspartoacylase activity in cultured skin fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced aspartoacylase activity in cultured skin fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced beating amplitudes in cilia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced beating amplitudes in cilia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced bending capacity of cilia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced bending capacity of cilia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced cd4+ count and proportionally increased cd8+ count ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced cd4+ count and proportionally increased cd8+ count | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced erythrocyte glucose/hexose transport ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced erythrocyte glucose/hexose transport | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced iga ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced iga | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced ige levels ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced ige levels | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced igg levels, particularly igg2 subclass ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced igg levels, particularly igg2 subclass | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced liver and red cell uroporphyrinogen decarboxylase (uro decarboxylase) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced platelet aggregation response to adp, collagen, epinephrine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced platelet aggregation response to adp, collagen, epinephrine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced platelet glycoprotein ib complex ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced platelet glycoprotein ib complex | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reduced unsaturated serum cobalamin binding capacity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reduced unsaturated serum cobalamin binding capacity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:renin decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:renin decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:resistance to 1,25-dihydroxyvitamin d3 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:resistance to 1,25-dihydroxyvitamin d3 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:respiratory epithelial show lack of ciliary movement or abnormal movement ---
r_associated #0: 20 -->
en:calcinuria
n1=en:respiratory epithelial show lack of ciliary movement or abnormal movement | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reticulocyte count increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reticulocyte count increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:reticulocytosis ---
r_associated #0: 20 -->
en:calcinuria
n1=en:reticulocytosis | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:rheumatoid factor negative ---
r_associated #0: 20 -->
en:calcinuria
n1=en:rheumatoid factor negative | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect ---
r_associated #0: 20 -->
en:calcinuria
n1=en:russell's viper venom assay may be prolonged or normal, depending on the genetic defect | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:saccharopine dehydrogenase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:saccharopine dehydrogenase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:saposin a deficiency (finding) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:saposin a deficiency (finding) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:sce normal in heterozygotes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:sce normal in heterozygotes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:schirmer test shows alacrima ---
r_associated #0: 20 -->
en:calcinuria
n1=en:schirmer test shows alacrima | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum acylcarnitine returns to borderline high or normal after resolution of fever ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum acylcarnitine returns to borderline high or normal after resolution of fever | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum albumin low result ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum albumin low result | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum aldosterone elevated ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum aldosterone elevated | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum alkaline phosphatase normal or mildly increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum alkaline phosphatase normal or mildly increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum and csf lactate may be increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum and csf lactate may be increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum bilirubin increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum bilirubin increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum c-reactive protein may be increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum c-reactive protein may be increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum calcitonin, increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum calcitonin, increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum calcium elevated ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum calcium elevated | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum carnitine deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum carnitine deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum cholesterol normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum cholesterol normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum cholesterol raised ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum cholesterol raised | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum complement decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum complement decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum copper decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum copper decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum cortisol elevated ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum cortisol elevated | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum creatine kinase 20-70 times normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum creatine kinase 20-70 times normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum creatine kinase may be increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum creatine kinase may be increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum creatine kinase may be normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum creatine kinase may be normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum ferritin hyperglycosylation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum ferritin hyperglycosylation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum folate normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum folate normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum gastrin increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum gastrin increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum homocysteine normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum homocysteine normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum iron low (finding) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum iron low (finding) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum iron normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum iron normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum iron raised ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum iron raised | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum phosphate concentration below normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum phosphate concentration below normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum prolactin increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum prolactin increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum thiamine is normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum thiamine is normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum thyroxine may be decreased or normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum thyroxine may be decreased or normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum transaminase increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum transaminase increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum transferrin glycosylation is normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum transferrin glycosylation is normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:serum triglycerides increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:serum triglycerides increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:severe amyloid angiopathy ---
r_associated #0: 20 -->
en:calcinuria
n1=en:severe amyloid angiopathy | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:severe thrombocytopenia (30-60 x 10(9)/l) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:severe thrombocytopenia (30-60 x 10(9)/l) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues ---
r_associated #0: 20 -->
en:calcinuria
n1=en:severely decreased carnitine palmitoyltransferase ii (cpt ii) activity (less than 10% of normal) in multiple tissues | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:severely impaired ciliary motility ---
r_associated #0: 20 -->
en:calcinuria
n1=en:severely impaired ciliary motility | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:shortened telomeres (in 1 of 2 patients) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:shortened telomeres (in 1 of 2 patients) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:sialylation defects ---
r_associated #0: 20 -->
en:calcinuria
n1=en:sialylation defects | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:skewed x-inactivation in females ---
r_associated #0: 20 -->
en:calcinuria
n1=en:skewed x-inactivation in females | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:slightly elevated 24-hour mean plasma cortisol ---
r_associated #0: 20 -->
en:calcinuria
n1=en:slightly elevated 24-hour mean plasma cortisol | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:slightly increased serum alkaline phosphatase may occur ---
r_associated #0: 20 -->
en:calcinuria
n1=en:slightly increased serum alkaline phosphatase may occur | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:smooth muscle antibodies positive ---
r_associated #0: 20 -->
en:calcinuria
n1=en:smooth muscle antibodies positive | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:some cilia show abnormal beating patterns or immotility ---
r_associated #0: 20 -->
en:calcinuria
n1=en:some cilia show abnormal beating patterns or immotility | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:some fragmented or disrupted golgi ---
r_associated #0: 20 -->
en:calcinuria
n1=en:some fragmented or disrupted golgi | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:some increase in monosialo- and trisialotransferrin (type 1/2 pattern) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:some patients carry a deletion of minimum of 8.1 mb on 2q32-q33 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:spongy degeneration of brain on histology ---
r_associated #0: 20 -->
en:calcinuria
n1=en:spongy degeneration of brain on histology | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:sterol 27-hydroxylase deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:sterol 27-hydroxylase deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine ---
r_associated #0: 20 -->
en:calcinuria
n1=en:stimulation of sympathetic fibers results in release of dopamine, not norepinephrine | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues ---
r_associated #0: 20 -->
en:calcinuria
n1=en:subepithelial fibrin deposition with inflammation (pseudomembranous inflammation) of mucosal tissues | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:submucosal macrophages filled with sphingolipids ---
r_associated #0: 20 -->
en:calcinuria
n1=en:submucosal macrophages filled with sphingolipids | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:systemic amyloidosis may occur ---
r_associated #0: 20 -->
en:calcinuria
n1=en:systemic amyloidosis may occur | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:t cells may be increased or decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:t cells may be increased or decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:t-cell deficit ---
r_associated #0: 20 -->
en:calcinuria
n1=en:t-cell deficit | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:t-lymphocytopenia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:t-lymphocytopenia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:t1 transport protein (glucose-6-phosphate translocase) defect ---
r_associated #0: 20 -->
en:calcinuria
n1=en:t1 transport protein (glucose-6-phosphate translocase) defect | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:tay-sachs disease ---
r_associated #0: 20 -->
en:calcinuria
n1=en:tay-sachs disease | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:telomere shortening ---
r_associated #0: 20 -->
en:calcinuria
n1=en:telomere shortening | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:thrombocytopenia, mild-moderate (60-100 x 10(9)/l) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:thymic hormone decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:thymic hormone decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:thyroid dyshormonogenesis 4 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:thyroid dyshormonogenesis 4 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:thyroid dyshormonogenesis 5 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:thyroid dyshormonogenesis 5 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:thyroid peroxidase defect ---
r_associated #0: 20 -->
en:calcinuria
n1=en:thyroid peroxidase defect | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:transferase deficiency galactosemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:transferase deficiency galactosemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:transient eosinophilia in first decade ---
r_associated #0: 20 -->
en:calcinuria
n1=en:transient eosinophilia in first decade | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:transient neonatal hypocalcemia (2p21del) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:transient neonatal hypocalcemia (2p21del) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:translocation between 18q21 and 14q32 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:translocation between 18q21 and 14q32 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:translocation of chromosomes 9 and 13 ---
r_associated #0: 20 -->
en:calcinuria
n1=en:translocation of chromosomes 9 and 13 | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition ---
r_associated #0: 20 -->
en:calcinuria
n1=en:transmission electron microscopy (tem) of patient respiratory cilia shows normal 9+2 axonemal composition | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:triglyceride decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:triglyceride decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:tryptophanuria ---
r_associated #0: 20 -->
en:calcinuria
n1=en:tryptophanuria | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:tsh decreased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:tsh decreased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:type 1 collagen overmodification ---
r_associated #0: 20 -->
en:calcinuria
n1=en:type 1 collagen overmodification | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:type ii, normal antithrombin iii level but decreased activity ---
r_associated #0: 20 -->
en:calcinuria
n1=en:type ii, normal antithrombin iii level but decreased activity | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:tyrosinemia ---
r_associated #0: 20 -->
en:calcinuria
n1=en:tyrosinemia | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:tyrosinemia (transient, resolves in infancy) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:tyrosinemia (transient, resolves in infancy) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:udp-galactose-4-epimerase deficiency in all cells ('generalized' or 'severe' form) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:ultra large von willebrand factor (ul-vwf) in plasma ---
r_associated #0: 20 -->
en:calcinuria
n1=en:ultra large von willebrand factor (ul-vwf) in plasma | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers ---
r_associated #0: 20 -->
en:calcinuria
n1=en:undetectable dopamine beta-hydroxylase (dbh) protein in plasma, csf, or sympathetic fibers | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:undetectable serum arginine vasopressin, or antidiuretic hormone (adh, avp, 192340) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:undetectable serum l-transferrin (homozygous patient) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:undetectable serum l-transferrin (homozygous patient) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:unprocessed 3-oxoacyl coa thiolase ---
r_associated #0: 20 -->
en:calcinuria
n1=en:unprocessed 3-oxoacyl coa thiolase | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:unresponsive to acth stimulation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:unresponsive to acth stimulation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:upregulation of alpha-interferon-stimulated genes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:upregulation of alpha-interferon-stimulated genes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:uric acid normal ---
r_associated #0: 20 -->
en:calcinuria
n1=en:uric acid normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urinary excretion of 3-hydroxyisovaleric acid, chronic ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urinary excretion of 3-hydroxyisovaleric acid, chronic | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urinary excretion of 3-methylcrotonylglycine, chronic ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urinary excretion of 3-methylcrotonylglycine, chronic | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urinary excretion of cationic amino acids (lysine, arginine, ornithine) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urinary excretion of cationic amino acids (lysine, arginine, ornithine) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urinary excretion of mucopolysaccharides ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urinary excretion of mucopolysaccharides | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urinary excretion of retinol-binding proteins (rbp) and vitamin d-binding proteins (dbp) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urine occasionally port-wine in color secondary to porphobilinogen ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urine occasionally port-wine in color secondary to porphobilinogen | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:urine odor, maple syrup ---
r_associated #0: 20 -->
en:calcinuria
n1=en:urine odor, maple syrup | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces ---
r_associated #0: 20 -->
en:calcinuria
n1=en:uroporphyrin i and coproporphyrin i are found in plasma, red blood cells, urine, and feces | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:uroporphyrinogen iii cosynthase (uro cosynthase) deficiency in blood and fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:vacuolated lymphocytes ---
r_associated #0: 20 -->
en:calcinuria
n1=en:vacuolated lymphocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:variable defects of inner dynein arms ---
r_associated #0: 20 -->
en:calcinuria
n1=en:variable defects of inner dynein arms | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:variegated translocation mosaicism in cultured fibroblasts ---
r_associated #0: 20 -->
en:calcinuria
n1=en:variegated translocation mosaicism in cultured fibroblasts | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:very long chain fatty acid accumulation ---
r_associated #0: 20 -->
en:calcinuria
n1=en:very long chain fatty acid accumulation | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:very low density lipoprotein increased ---
r_associated #0: 20 -->
en:calcinuria
n1=en:very low density lipoprotein increased | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:very low igg ---
r_associated #0: 20 -->
en:calcinuria
n1=en:very low igg | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:very low igm ---
r_associated #0: 20 -->
en:calcinuria
n1=en:very low igm | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:very low leptin level ---
r_associated #0: 20 -->
en:calcinuria
n1=en:very low leptin level | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:vitamin b12 deficiency (uncommon) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:vitamin b12 deficiency (uncommon) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:vitamin k deficiency ---
r_associated #0: 20 -->
en:calcinuria
n1=en:vitamin k deficiency | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- en:widespread interstitial fibrosis (visceral organs) ---
r_associated #0: 20 -->
en:calcinuria
n1=en:widespread interstitial fibrosis (visceral organs) | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- hyperbilirubinémie des nouveau-nés ---
r_associated #0: 20 -->
en:calcinuria
n1=hyperbilirubinémie des nouveau-nés | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- hypercalciurie ---
r_associated #0: 20 -->
en:calcinuria
n1=hypercalciurie | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- lithiase rénale ---
r_associated #0: 20 -->
en:calcinuria
n1=lithiase rénale | n2=en:calcinuria | rel=r_associated | relid=0 | w=20
- TCT ---
r_associated #0: 15 -->
en:calcinuria
n1=TCT | n2=en:calcinuria | rel=r_associated | relid=0 | w=15
- cholestérol sanguin élevé ---
r_associated #0: 15 -->
en:calcinuria
n1=cholestérol sanguin élevé | n2=en:calcinuria | rel=r_associated | relid=0 | w=15
- glucose sanguin normal ---
r_associated #0: 15 -->
en:calcinuria
n1=glucose sanguin normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=15
- protides totaux diminués ---
r_associated #0: 15 -->
en:calcinuria
n1=protides totaux diminués | n2=en:calcinuria | rel=r_associated | relid=0 | w=15
- Lithiase rénale ---
r_associated #0: 10 -->
en:calcinuria
n1=Lithiase rénale | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- acido-cétose ---
r_associated #0: 10 -->
en:calcinuria
n1=acido-cétose | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- acidocétose ---
r_associated #0: 10 -->
en:calcinuria
n1=acidocétose | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcium normal ---
r_associated #0: 10 -->
en:calcinuria
n1=calcium normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcul coralliforme ---
r_associated #0: 10 -->
en:calcinuria
n1=calcul coralliforme | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcul du rein ---
r_associated #0: 10 -->
en:calcinuria
n1=calcul du rein | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcul intrarénal ---
r_associated #0: 10 -->
en:calcinuria
n1=calcul intrarénal | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcul matriciel en imagerie ---
r_associated #0: 10 -->
en:calcinuria
n1=calcul matriciel en imagerie | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcul rénal ---
r_associated #0: 10 -->
en:calcinuria
n1=calcul rénal | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- cholestérol normal ---
r_associated #0: 10 -->
en:calcinuria
n1=cholestérol normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- déficit en vitamine K ---
r_associated #0: 10 -->
en:calcinuria
n1=déficit en vitamine K | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- en:nephrolithiasis ---
r_associated #0: 10 -->
en:calcinuria
n1=en:nephrolithiasis | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- hypertriglycéridémie ---
r_associated #0: 10 -->
en:calcinuria
n1=hypertriglycéridémie | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- hypo-bêta-lipoprotéinémie ---
r_associated #0: 10 -->
en:calcinuria
n1=hypo-bêta-lipoprotéinémie | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- hypo-bêtalipoprotéinémie ---
r_associated #0: 10 -->
en:calcinuria
n1=hypo-bêtalipoprotéinémie | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- hypoxia ---
r_associated #0: 10 -->
en:calcinuria
n1=hypoxia | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- lithiase du rein ---
r_associated #0: 10 -->
en:calcinuria
n1=lithiase du rein | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- néphrolithiase ---
r_associated #0: 10 -->
en:calcinuria
n1=néphrolithiase | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- paraprotéinémie ---
r_associated #0: 10 -->
en:calcinuria
n1=paraprotéinémie | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- phosphate normal ---
r_associated #0: 10 -->
en:calcinuria
n1=phosphate normal | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- taux sériques élevés d'hormones thyroïdiennes libres plasmatiques ---
r_associated #0: 10 -->
en:calcinuria
n1=taux sériques élevés d'hormones thyroïdiennes libres plasmatiques | n2=en:calcinuria | rel=r_associated | relid=0 | w=10
- calcitriol ---
r_associated #0: 5 -->
en:calcinuria
n1=calcitriol | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- calcium calmodulin-dependent serine threonine protein kinase ---
r_associated #0: 5 -->
en:calcinuria
n1=calcium calmodulin-dependent serine threonine protein kinase | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- calcium ionisé ---
r_associated #0: 5 -->
en:calcinuria
n1=calcium ionisé | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- calcium radioactif ---
r_associated #0: 5 -->
en:calcinuria
n1=calcium radioactif | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- calcul fécaloïde ---
r_associated #0: 5 -->
en:calcinuria
n1=calcul fécaloïde | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- calcul salivaire ---
r_associated #0: 5 -->
en:calcinuria
n1=calcul salivaire | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- carence en vitamine K ---
r_associated #0: 5 -->
en:calcinuria
n1=carence en vitamine K | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- diminution de la longueur des télomères dans les lymphocytes ---
r_associated #0: 5 -->
en:calcinuria
n1=diminution de la longueur des télomères dans les lymphocytes | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- faible numération lymphocytaire absolue ---
r_associated #0: 5 -->
en:calcinuria
n1=faible numération lymphocytaire absolue | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- gastrine sérique augmentée ---
r_associated #0: 5 -->
en:calcinuria
n1=gastrine sérique augmentée | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
- réponse lymphocytaire diminuée à la phytohémagglutinine ---
r_associated #0: 5 -->
en:calcinuria
n1=réponse lymphocytaire diminuée à la phytohémagglutinine | n2=en:calcinuria | rel=r_associated | relid=0 | w=5
|