Dandy-walker malformation with occipital cephalocele, autosomal dominant

Preferred Label : Dandy-walker malformation with occipital cephalocele, autosomal dominant;

Symbol : ADDWOC;

CISMeF acronym : ADDWOC;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %609222;

Détails

Origin ID

609222;

UMLS CUI

C2674987;

Currated CISMeF NLP mapping
- Dandy-Walker malformation with occipital cephalocele, autosomal dominant [MeSH concept]
- Dandy-Walker malformation with occipital cephalocele, autosomal dominant [MeSH Supplementary Concept]
HPO term(s)
- Atretic occipital cephalocele [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dandy-Walker malformation [HPO term]
- Incomplete penetrance [HPO term]
- Macrocephaly at birth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dandy-Walker malformation with occipital cephalocele, autosomal dominant [MeSH Supplementary Concept]
- Dandy-Walker malformation with occipital cephalocele, autosomal dominant [MeSH concept]

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