Alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism

Preferred Label : Alopecia-impaired intellectual developmental syndrome with convulsions and hypergonadotropic hypogonadism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism;

Inheritance : Autosomal recessive vs. X-linked recessive;

Prefixed ID : 601217;

Details

Origin ID

601217;

UMLS CUI

C1832593;

Automatic exact mappings (from CISMeF team)
- Alopecia-Mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [MeSH concept]
- Alopecia-Mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome [ORDO Disease]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Decreased testicular size [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Intellectual disability, mild [HPO term]
- Micropenis [HPO term]
- Seizure [HPO term]
- Woolly hair [HPO term]
- Woolly scalp hair [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alopecia-Mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [MeSH Supplementary Concept]
- Alopecia-Mental retardation syndrome with convulsions and hypergonadotropic hypogonadism [MeSH concept]
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome [ORDO Disease]

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