Diko : en:papillon-lefevre disease

en:papillon-lefevre disease

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

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umls:C0030360

Associations d'idées

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›

133

maladie

•

en:acrorenal mandibular syndrome

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

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:hypertrichosis and acromegaloid facial appearance syndrome

•

en:diffuse palmoplantar keratoderma and acrocyanosis syndrome

•

en:hypohidrosis due to genetic abnormality of eccrine gland structure and function

•

en:craniofacial ulnar renal syndrome

•

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

•

en:absence of fingerprints with congenital milia syndrome

•

en:osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

•

en:cooper jabs syndrome

•

en:autosomal dominant palmoplantar keratoderma and congenital alopecia

•

en:familial median cleft of upper and lower lip

•

en:generalized peeling skin syndrome

•

en:anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

•

en:czech dysplasia, metatarsal type

•

en:acro-dermato-ungual-lacrimal-tooth syndrome

•

en:brachioskeletogenital syndrome

•

en:najjar syndrome

•

en:pelviscapular dysplasia

•

en:manouvrier syndrome

•

en:scholte syndrome

•

en:cleidorhizomelic syndrome

•

en:diaphanospondylodysostosis

•

en:hypomandibular faciocranial dysostosis

•

en:microcephaly albinism digital anomalies syndrome

•

en:renal dysplasia - limb defects syndrome

•

en:heart defects limb shortening

•

en:hyperinsulinism due to uncoupling protein 2 deficiency

•

en:steatocystoma multiplex with natal tooth syndrome

•

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

•

en:deafness and myopia syndrome

•

en:moyamoya disease with early onset achalasia

•

en:x-linked intellectual disability with ataxia and apraxia syndrome

•

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:hyperinsulinism due to hnf1a deficiency

•

en:hyperinsulinism due to insulin receptor deficiency

•

en:arterial dissection and lentiginosis syndrome

•

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:craniosynostosis with facial dysmorphism and brachydactyly syndrome

•

en:dyschondrosteosis and nephritis syndrome

•

en:congenital disorder of glycosylation type 1h

•

en:braddock syndrome

•

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

•

en:short fifth metacarpal insulin resistance syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

en:oculocutaneous albinism type 6

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:basal epidermolysis bullosa simplex

•

en:morava mehes 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:hall riggs syndrome

•

en:preaxial deficiency, postaxial polydactyly and hypospadias

•

en:fountain syndrome

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:cor triatriatum

•

en:ctsc, gln286ter

•

en:ctsc, 1-bp del, 1056t

•

en:ctsc, arg210ter

•

en:ctsc, his127pro

•

en:ctsc, trp39ser

•

en:ctsc, gln252leu

•

en:ctsc, trp429cys

•

en:ctsc, glu286ter

•

en:ctsc, ivs3as, g-a, -1

•

en:ctsc, gly301ser

•

en:ctsc, tyr347cys

•

en:congenital disorder of glycosylation, type if

•

en:ctsc, 1-bp del, 2692a

•

en:lethal neonatal rigidity and multifocal seizure syndrome

•

en:microcephaly and chorioretinopathy, autosomal recessive, type 1

•

en:split-hand/foot malformation 3

•

en:genetic disorder of skin pigmentation

•

en:bestrophinopathy, autosomal recessive

•

en:chronic diarrhea with villous atrophy syndrome

•

en:polydactyly, preaxial ii (disorder)

•

en:odonto onycho dysplasia with alopecia syndrome

•

en:mental retardation, autosomal recessive 34

•

en:insulin growth factor i deficiency

•

en:non-androgenic hypertrichosis with genetic disease

•

en:metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

•

en:pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

•

en:Triple a syndrome

•

en:bone dysplasia azouz type

•

coeur triatrial

•

en:ctsc, tyr32ter

•

en:brain calcification rajab type

•

en:pterygium colli mental retardation digital anomalies

•

en:maternal diabetes and deafness syndrome

•

en:bamforth syndrome

•

en:halal syndrome

•

en:tissue kallikrein deficiency

•

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

•

en:eiken type chondrodysplasia

•

en:cortical dysplasia-focal epilepsy syndrome

•

en:insulin receptor mutation - associated insulin resistance syndromes

•

en:single central incisor syndrome

•

en:acrodysostosis 1

•

en:plasma kallikrein deficiency

•

en:carbonic anhydrase i deficiency

•

en:10p13-p14 deletion syndrome

•

en:autoimmune polyglandular syndrome

•

en:mucolipidosis type iii gamma

•

en:multiple vascular disruption syndrome

•

en:hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

•

en:chromosome 16p12.1 deletion syndrome

•

en:mental retardation, autosomal dominant 9

•

en:ataxia-telangiectasisa-like disorder 1

•

en:gracile bone dysplasia

•

en:mitochondrial dna depletion syndrome 12

•

en:kenny-caffey syndrome type 2

•

en:mullerian-renal-cervical spine syndrome

•

en:wilms tumor 1 gene syndromes

•

en:triple a syndrome

•

en:late-onset junctional epidermolysis bullosa

•

en:pili torti onychodysplasia syndrome

•

en:piussan lenaerts mathieu syndrome

•

en:ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

•

en:anauxetic dysplasia

•

en:leukoencephalopathy with metaphyseal chondrodysplasia syndrome

◀

‹

136

cœur triatrial

•

coeur triatrial

•

en:renal dysplasia - limb defects syndrome

•

en:heart defects limb shortening

•

en:fountain syndrome

•

en:chromosome 16p12.1 deletion syndrome

•

en:steatocystoma multiplex with natal tooth syndrome

•

en:halal syndrome

•

en:insulin growth factor i deficiency

•

en:piussan lenaerts mathieu syndrome

•

en:pili torti onychodysplasia syndrome

•

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

•

en:mental retardation, autosomal recessive 34

•

en:acro-dermato-ungual-lacrimal-tooth syndrome

•

en:czech dysplasia, metatarsal type

•

en:cooper jabs syndrome

•

en:hypohidrosis due to genetic abnormality of eccrine gland structure and function

•

en:hyperinsulinism due to hnf1a deficiency

•

en:hyperinsulinism due to insulin receptor deficiency

•

en:ctsc, tyr347cys

•

en:ctsc, gly301ser

•

en:mitochondrial dna depletion syndrome 12

•

en:diaphanospondylodysostosis

•

en:najjar syndrome

•

en:hypertrichosis and acromegaloid facial appearance syndrome

•

en:craniofacial ulnar renal syndrome

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

en:basal epidermolysis bullosa simplex

•

en:deafness and myopia syndrome

•

en:congenital disorder of glycosylation type 1h

•

en:dyschondrosteosis and nephritis syndrome

•

en:autoimmune polyglandular syndrome

•

en:ctsc, his127pro

•

en:late-onset junctional epidermolysis bullosa

•

en:mental retardation, autosomal dominant 9

•

en:ataxia-telangiectasisa-like disorder 1

•

en:bamforth syndrome

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

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

•

en:congenital disorder of glycosylation type 2e

•

en:congenital analbuminemia

•

en:tissue kallikrein deficiency

•

en:polydactyly, preaxial ii (disorder)

•

en:split-hand/foot malformation 3

•

en:ctsc, tyr32ter

•

en:mucolipidosis type iii gamma

•

en:acrodysostosis 1

•

en:pterygium colli mental retardation digital anomalies

•

en:preaxial deficiency, postaxial polydactyly and hypospadias

•

en:microcephaly albinism digital anomalies syndrome

•

en:brachioskeletogenital syndrome

•

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

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

en:short fifth metacarpal insulin resistance syndrome

•

en:eiken type chondrodysplasia

•

en:ctsc, trp39ser

•

en:wilms tumor 1 gene syndromes

•

en:10p13-p14 deletion syndrome

•

en:plasma kallikrein deficiency

•

en:cortical dysplasia-focal epilepsy syndrome

•

en:autosomal recessive spastic paraplegia type 39

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:diffuse palmoplantar keratoderma and acrocyanosis syndrome

•

en:craniosynostosis with facial dysmorphism and brachydactyly syndrome

•

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:x-linked intellectual disability with ataxia and apraxia syndrome

•

en:anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

•

en:ctsc, ivs3as, g-a, -1

•

en:ctsc, gln286ter

•

en:ctsc, 1-bp del, 1056t

•

en:ctsc, glu286ter

•

en:bestrophinopathy, autosomal recessive

•

en:congenital disorder of glycosylation, type if

•

en:cor triatriatum

•

en:lethal neonatal rigidity and multifocal seizure syndrome

•

en:metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome

•

en:hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

•

en:brain calcification rajab type

•

en:arterial dissection and lentiginosis syndrome

•

en:kenny-caffey syndrome type 2

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:single central incisor syndrome

•

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

•

en:braddock syndrome

•

en:morava mehes syndrome

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:absence of fingerprints with congenital milia syndrome

•

en:familial median cleft of upper and lower lip

•

en:scholte syndrome

•

en:hypomandibular faciocranial dysostosis

•

en:manouvrier syndrome

•

en:bone dysplasia azouz type

•

en:ctsc, gln252leu

•

en:ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

•

en:mullerian-renal-cervical spine syndrome

•

en:cleidorhizomelic syndrome

•

en:hyperinsulinism due to uncoupling protein 2 deficiency

•

en:generalized peeling skin syndrome

•

en:autosomal dominant palmoplantar keratoderma and congenital alopecia

•

en:osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome

•

en:lethal larsen-like syndrome

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:oculocutaneous albinism type 6

•

en:moyamoya disease with early onset achalasia

•

en:multiple vascular disruption syndrome

•

en:Triple a syndrome

•

en:non-androgenic hypertrichosis with genetic disease

•

en:odonto onycho dysplasia with alopecia syndrome

•

en:anauxetic dysplasia

•

en:triple a syndrome

•

en:ectodermal dysplasia with blindness syndrome

•

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

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:congenital cataract with ataxia and deafness syndrome

•

en:robinow-like syndrome

•

en:leukoencephalopathy with metaphyseal chondrodysplasia syndrome

•

en:hall riggs syndrome

•

en:microcephaly and chorioretinopathy, autosomal recessive, type 1

•

en:pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome

•

en:chronic diarrhea with villous atrophy syndrome

•

en:genetic disorder of skin pigmentation

•

en:ctsc, 1-bp del, 2692a

•

en:ctsc, trp429cys

•

en:ctsc, arg210ter

•

en:maternal diabetes and deafness syndrome

•

en:gracile bone dysplasia

•

en:carbonic anhydrase i deficiency

•

en:insulin receptor mutation - associated insulin resistance syndromes

•

en:acrorenal mandibular syndrome

•

en:pelviscapular dysplasia

•

en:kallman syndrome with heart disease

•

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

•

maladie

•

absence d'empreintes digitales avec syndrome de milia congénital

•

syndromes du gène 1 de la tumeur de Wilms

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9102727 • caches: c1=6 c2=138 c3=137

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