Cutis verticis gyrata, thyroid aplasia, and impaired intellectual development

Preferred Label : Cutis verticis gyrata, thyroid aplasia, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cutis verticis gyrata, thyroid aplasia, and mental retardation;

Inheritance : X-linked;

Prefixed ID : 304200;

Details

Origin ID

304200;

UMLS CUI

C0795848;

Automatic exact mappings (from CISMeF team)
- Cutis verticis gyrata-intellectual disability syndrome [ORDO Disease]
- akesson syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the endocrine system [HPO term]
- Cutis gyrata of scalp [HPO term]
- Intellectual disability [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Cutis verticis gyrata-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Akesson syndrome [MeSH concept]
- Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome [ORDO Disease]
- akesson syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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