Charcot-marie-tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita

Preferred Label : Charcot-marie-tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : X-linked;

Prefixed ID : 302803;

Details

Origin ID

302803;

UMLS CUI

C1844864;

Currated CISMeF NLP mapping
- charcot marie tooth type 1 aplasia cutis congenita [MeSH Supplementary Concept]
HPO term(s)
- Aplasia cutis congenita of scalp [HPO term]
- Calvarial skull defect [HPO term]
- Motor axonal neuropathy [HPO term]
- Sensory axonal neuropathy [HPO term]
- Type I hereditary motor and sensory neuropathy [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot Marie Tooth type 1 aplasia cutis congenita [MeSH concept]
- charcot marie tooth type 1 aplasia cutis congenita [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients