schimke X-linked mental retardation syndrome

Preferred Label : schimke X-linked mental retardation syndrome;

MeSH synonym : choreoathetosis with mental retardation X- linked; progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness; childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness; choreoathetosis with mental retardation, X-Linked;

Details

Origin ID

C536630;

UMLS CUI

C1839320;

Currated CISMeF NLP mapping
- Schimke syndrome [OMIM Phenotype]
- X-linked intellectual disability, Schimke type [ORDO Disease]
Has phenotype(s) (HPO)
- Deafness [HPO term]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- deafness [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
ORDO relation(s)
- X-linked intellectual disability, Schimke type [ORDO Disease]
Record concept(s)
- Schimke X-linked mental retardation syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schimke syndrome [OMIM Phenotype]
- X-linked intellectual disability, Schimke type [ORDO Disease]

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