Schimke syndrome

Preferred Label : Schimke syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Choreoathetosis with mental retardation, X-linked; Schimke X-linked mental retardation syndrome;

Inheritance : X-linked;

Prefixed ID : 312840;

Details

Origin ID

312840;

UMLS CUI

C1839320;

Currated CISMeF NLP mapping
- Schimke X-linked mental retardation syndrome [MeSH concept]
- X-linked intellectual disability, Schimke type [ORDO Disease]
- schimke X-linked mental retardation syndrome [MeSH Supplementary Concept]
HPO term(s)
- Choreoathetosis [HPO term]
- Deafness [HPO term]
- External ophthalmoplegia [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Secondary microcephaly [HPO term]
- Spasticity [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability, Schimke type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schimke X-linked mental retardation syndrome [MeSH concept]
- X-linked intellectual disability, Schimke type [ORDO Disease]
- schimke X-linked mental retardation syndrome [MeSH Supplementary Concept]

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