Diko : en:hmn (hereditary motor neuropathy) proximal type i

en:hmn (hereditary motor neuropathy) proximal type i

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

›

umls:C0043116

Associations d'idées

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›

asi de type i

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en:werdnig-hoffmann disease

•

poliomyélite antérieure chronique familiale de l'enfant

•

amyotrophie spinale proximale type i

•

asi de type 1

•

maladie de Werdnig-Hoffmann

•

amyotrophie spinale de type 1

•

amyotrophie spinale proximale type 1

•

amyotrophie spinale infantile type i

•

amyotrophies spinales infantiles

•

amyotrophie spinale infantile

•

amyotrophie spinale infantile type 1

•

amyotrophie spinale de type i

•

amyotrophie à forme werdnig-hoffmann

•

neuropathie

•

en:death secondary to respiratory infection or failure before age 2 years

•

en:moyamoya disease with early onset achalasia

•

en:robinow-like syndrome

•

en:congenital cardiac malformations have been rarely reported in severe cases

•

en:smn1, tyr272cys

•

en:smn1, gly279val

•

en:smn1, ala111gly

•

en:smn1, 11-bp dup, 801-811

•

en:smn1, 4-bp del, 399agag

•

en:smn1, 5-bp del, 425

•

en:smn1, gln136glu

•

en:smn1, ile116phe

•

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

•

en:craniofacial ulnar renal syndrome

•

en:congenital analbuminemia

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:kallman syndrome with heart disease

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

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

•

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

•

en:hall riggs syndrome

•

en:congenital disorder of glycosylation type 2e

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

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

•

en:lethal larsen-like syndrome

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:ectodermal dysplasia with blindness syndrome

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:oculocutaneous albinism type 6

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:braddock syndrome

•

en:deafness and myopia syndrome

•

en:congenital disorder of glycosylation type 1h

•

en:autosomal recessive spastic paraplegia type 39

•

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

•

en:generalized peeling skin syndrome

•

en:cooper jabs syndrome

•

en:late-onset junctional epidermolysis bullosa

•

en:familial median cleft of upper and lower lip

•

en:brain calcification rajab type

•

en:childhood spinal muscular atrophies

•

syndrome de Werdnig-Hoffmann

•

en:Werdnig-Hoffmann's disease

•

Werdnig-Hoffmann (maladie de)

•

maladie de werdnig-hoffmann

•

en:insulin growth factor i deficiency

•

en:muscular atrophy, spinal, infantile chronic form

•

en:spinal muscular atrophy, finkel type

•

en:bestrophinopathy, autosomal recessive

•

en:split-hand/foot malformation 3

•

en:spinal muscular atrophy, type iv

•

en:congenital disorder of glycosylation, type if

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en:anauxetic dysplasia

•

en:najjar syndrome

•

en:pili torti onychodysplasia syndrome

•

en:bamforth syndrome

•

en:fountain syndrome

•

en:yemenite deaf-blind hypopigmentation syndrome

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en:heart defects limb shortening

•

en:renal dysplasia - limb defects syndrome

•

en:microcephaly albinism digital anomalies syndrome

•

en:hypomandibular faciocranial dysostosis

•

en:diaphanospondylodysostosis

•

en:manouvrier syndrome

•

en:acrorenal mandibular syndrome

•

en:pelviscapular dysplasia

•

en:spondyloepiphyseal dysplasia tarda kohn type

◀

‹

en:spondyloepiphyseal dysplasia tarda kohn type

•

en:acrorenal mandibular syndrome

•

en:braddock syndrome

•

en:najjar syndrome

•

en:robinow-like syndrome

•

en:hall riggs syndrome

•

en:pelviscapular dysplasia

•

en:heart defects limb shortening

•

maladie de werdnig-hoffmann

•

en:yemenite deaf-blind hypopigmentation syndrome

•

en:Werdnig-Hoffmann's disease

•

Werdnig-Hoffmann (maladie de)

•

amyotrophie spinale infantile

•

en:craniofacial ulnar renal syndrome

•

en:microcephaly albinism digital anomalies syndrome

•

asi de type i

•

maladie de Werdnig-Hoffmann

•

poliomyélite antérieure chronique familiale de l'enfant

•

en:familial median cleft of upper and lower lip

•

en:childhood spinal muscular atrophies

•

en:smn1, tyr272cys

•

en:split-hand/foot malformation 3

•

en:congenital disorder of glycosylation, type if

•

en:manouvrier syndrome

•

en:spondylometaphyseal dysplasia with cone-rod dystrophy syndrome

•

en:congenital analbuminemia

•

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

•

en:primary immunodeficiency syndrome due to p14 deficiency

•

en:zellweger-like syndrome without peroxisomal anomaly

•

en:congenital disorder of glycosylation type 1h

•

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

•

en:death secondary to respiratory infection or failure before age 2 years

•

en:deafness and myopia syndrome

•

en:ectodermal dysplasia with blindness syndrome

•

en:congenital disorder of glycosylation type 2e

•

en:cooper jabs syndrome

•

en:bamforth syndrome

•

amyotrophie spinale de type 1

•

amyotrophie spinale infantile type i

•

en:spinal muscular atrophy, finkel type

•

syndrome de Werdnig-Hoffmann

•

en:congenital cardiac malformations have been rarely reported in severe cases

•

en:generalized peeling skin syndrome

•

en:autosomal recessive spastic paraplegia type 39

•

en:renal dysplasia - limb defects syndrome

•

en:lissencephaly type 3 familial fetal akinesia sequence syndrome

•

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

•

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

•

en:hypomandibular faciocranial dysostosis

•

en:smn1, gly279val

•

en:bestrophinopathy, autosomal recessive

•

en:smn1, 4-bp del, 399agag

•

en:moyamoya disease with early onset achalasia

•

en:smn1, 5-bp del, 425

•

en:smn1, ala111gly

•

en:fountain syndrome

•

en:insulin growth factor i deficiency

•

en:smn1, gln136glu

•

amyotrophie spinale infantile type 1

•

amyotrophie spinale de type i

•

en:pili torti onychodysplasia syndrome

•

amyotrophie spinale proximale type 1

•

en:ehlers-danlos syndrome kyphoscoliotic and deafness type

•

en:cervical hypertrichosis and peripheral neuropathy syndrome

•

en:lethal larsen-like syndrome

•

en:congenital cataract with ataxia and deafness syndrome

•

en:kallman syndrome with heart disease

•

en:spinal muscular atrophy, type iv

•

amyotrophie à forme werdnig-hoffmann

•

en:smn1, 11-bp dup, 801-811

•

en:cutaneous photosensitivity and lethal colitis syndrome

•

en:brain calcification rajab type

•

en:oculocutaneous albinism type 6

•

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

•

en:late-onset junctional epidermolysis bullosa

•

en:muscular atrophy, spinal, infantile chronic form

•

en:smn1, ile116phe

•

en:anauxetic dysplasia

•

amyotrophie spinale proximale type i

•

amyotrophies spinales infantiles

•

asi de type 1

•

en:diaphanospondylodysostosis

•

en:adducted thumbs and arthrogryposis syndrome christian type

•

en:werdnig-hoffmann disease

•

neuropathie

•

Werdnig-Hoffmann (syndrome de)

•

en:neuropathy

•

Neuropathie

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9102401 • caches: c1=50 c2=619 c3=90

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