Diko : en:hmg coa lyase deficiency

en:hmg coa lyase deficiency

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C0268601

Associations d'idées

[F]

›

acidurie hydroxyméthylglutarique

•

en:hmg-coa lyase deficiency

•

lyase

•

en:phosphoglycerate mutase deficiency

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:kallman syndrome with heart disease

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

en:congenital analbuminemia

•

en:craniofacial ulnar renal syndrome

•

en:mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency

•

en:cooper jabs syndrome

•

en:generalized peeling skin syndrome

•

en:bisphosphoglycerate mutase deficiency

•

en:renal dysplasia - limb defects syndrome

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

en:najjar syndrome

•

en:pelviscapular dysplasia

•

en:acrorenal mandibular syndrome

•

en:manouvrier syndrome

•

en:diaphanospondylodysostosis

•

en:hypomandibular faciocranial dysostosis

•

en:microcephaly albinism digital anomalies syndrome

•

en:familial median cleft of upper and lower lip

•

en:palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome

•

en:dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

•

en:glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

•

en:robinow-like syndrome

•

en:autosomal recessive spastic paraplegia type 39

•

en:congenital disorder of glycosylation type 1h

•

en:deafness and myopia syndrome

•

en:braddock syndrome

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

en:hall riggs syndrome

•

en:oculocutaneous albinism type 6

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:ectodermal dysplasia with blindness syndrome

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:lethal larsen-like syndrome

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:congenital disorder of glycosylation type 2e

•

en:heart defects limb shortening

•

en:fountain syndrome

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:ceruloplasmin deficiency

•

en:lethal neonatal rigidity and multifocal seizure syndrome

•

en:deficiency of lysine-trna ligase

•

en:deficiency of long-chain fatty-acyl-coa hydrolase

•

en:deficiency of hydroxymethylglutaryl-coa hydrolase

•

en:deficiency of inosine nucleosidase

•

en:deficiency of chymosin

•

en:deficiency of phosphoadenylate 3'-nucleotidase

•

en:split-hand/foot malformation 3

•

en:deficiency of acetyl-coa acetyltransferase

•

en:congenital disorder of glycosylation, type if

•

en:bestrophinopathy, autosomal recessive

•

en:mental retardation, autosomal recessive 34

•

en:deficiency of mitochondrial aspartyl-trna synthetase

•

en:hexose-6-phosphate dehydrogenase deficiency

•

en:insulin growth factor i deficiency

•

en:hydroxymethylglutaric aciduria

•

en:erythrocyte enolase deficiency

•

coeur triatrial

•

en:cor triatriatum

•

en:hmgcl, glu279lys

•

en:bamforth syndrome

•

en:mental retardation, autosomal dominant 9

•

en:tissue kallikrein deficiency

•

en:long-chain 3-hydroxyacyl-coa dehydrogenase deficiency

•

en:eiken type chondrodysplasia

•

en:cortical dysplasia-focal epilepsy syndrome

•

en:acrodysostosis 1

•

en:plasma kallikrein deficiency

•

en:carbonic anhydrase i deficiency

•

en:mucolipidosis type iii gamma

•

en:ataxia-telangiectasisa-like disorder 1

•

en:hmgcl, 2-bp del, tt, codon 305

•

en:mitochondrial dna depletion syndrome 12

•

en:late-onset junctional epidermolysis bullosa

•

en:pili torti onychodysplasia syndrome

•

en:anauxetic dysplasia

•

en:brain calcification rajab type

•

en:microcephaly and chorioretinopathy, autosomal recessive, type 1

•

en:hmgcl, arg41gln

•

en:hmgcl, val70leu

•

en:hmgcl, 930-bp del, ex3-6del

•

en:moyamoya disease with early onset achalasia

◀

‹

102

cœur triatrial

•

coeur triatrial

•

acidurie hydroxyméthylglutarique

•

en:ceruloplasmin deficiency

•

en:hydroxymethylglutaric aciduria

•

en:congenital analbuminemia

•

en:phosphoglycerate mutase deficiency

•

en:brain calcification rajab type

•

en:hypomandibular faciocranial dysostosis

•

en:mental retardation, autosomal dominant 9

•

en:mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

en:autosomal recessive spastic paraplegia type 39

•

en:moyamoya disease with early onset achalasia

•

en:bisphosphoglycerate mutase deficiency

•

en:deficiency of chymosin

•

en:deficiency of lysine-trna ligase

•

en:hmgcl, glu279lys

•

en:hmgcl, 2-bp del, tt, codon 305

•

en:mitochondrial dna depletion syndrome 12

•

en:ataxia-telangiectasisa-like disorder 1

•

en:plasma kallikrein deficiency

•

en:diaphanospondylodysostosis

•

en:eiken type chondrodysplasia

•

en:cooper jabs syndrome

•

en:deafness and myopia syndrome

•

en:kallman syndrome with heart disease

•

en:acute infantile liver failure due to synthesis defect of mitochondrial deoxyribonucleic acid encoded protein

•

en:robinow-like syndrome

•

en:congenital disorder of glycosylation type 1h

•

en:fountain syndrome

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:palmoplantar keratoderma, 46,xx sex reversal, predisposition to squamous cell carcinoma syndrome

•

en:dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:cor triatriatum

•

en:hexose-6-phosphate dehydrogenase deficiency

•

en:bestrophinopathy, autosomal recessive

•

en:split-hand/foot malformation 3

•

en:deficiency of phosphoadenylate 3'-nucleotidase

•

en:hmgcl, arg41gln

•

en:hmg-coa lyase deficiency

•

en:congenital disorder of glycosylation type 2e

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:cortical dysplasia-focal epilepsy syndrome

•

en:lethal larsen-like syndrome

•

en:pelviscapular dysplasia

•

en:tissue kallikrein deficiency

•

en:acrodysostosis 1

•

en:congenital disorder of glycosylation, type if

•

en:heart defects limb shortening

•

en:microcephaly and chorioretinopathy, autosomal recessive, type 1

•

en:najjar syndrome

•

en:microcephaly albinism digital anomalies syndrome

•

en:acrorenal mandibular syndrome

•

en:ectodermal dysplasia with blindness syndrome

•

en:hall riggs syndrome

•

en:manouvrier syndrome

•

en:anauxetic dysplasia

•

en:hmgcl, val70leu

•

en:deficiency of inosine nucleosidase

•

en:deficiency of acetyl-coa acetyltransferase

•

en:deficiency of mitochondrial aspartyl-trna synthetase

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:carbonic anhydrase i deficiency

•

en:bamforth syndrome

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:renal dysplasia - limb defects syndrome

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:braddock syndrome

•

en:oculocutaneous albinism type 6

•

en:pili torti onychodysplasia syndrome

•

en:erythrocyte enolase deficiency

•

en:insulin growth factor i deficiency

•

en:mental retardation, autosomal recessive 34

•

en:lethal neonatal rigidity and multifocal seizure syndrome

•

en:hmgcl, 930-bp del, ex3-6del

•

en:mucolipidosis type iii gamma

•

en:late-onset junctional epidermolysis bullosa

•

en:long-chain 3-hydroxyacyl-coa dehydrogenase deficiency

•

en:craniofacial ulnar renal syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

•

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

en:generalized peeling skin syndrome

•

en:familial median cleft of upper and lower lip

•

en:deficiency of long-chain fatty-acyl-coa hydrolase

•

en:deficiency of hydroxymethylglutaryl-coa hydrolase

•

acidoses lactiques (classification selon Cohen et Woods)

•

acidurie glutarique de type 1

•

acidurie 4-hydroxybutyrique

•

acidurie 3-méthylglutaconique

•

acidurie 3-hydroxy-3-méthyl-glutarique

•

acidurie

•

acinus hépatique de Rappaport

•

acinus

•

acini

•

acineux

•

Acinetobacter

•

acidurie paradoxale

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9102919 • caches: c1=6 c2=105 c3=103

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués