microcephaly, primary autosomal recessive, 1

Preferred Label : microcephaly, primary autosomal recessive, 1;

MeSH note : mutationin MCPH1;

MeSH synonym : premature chromosome condensation with microcephaly and mental retardation; premature chromosome condensation syndrome;

Details

Origin ID

C565384;

UMLS CUI

C1855081;

Automatic exact mappings (from CISMeF team)
- Microcephaly 1, primary, autosomal recessive [OMIM Phenotype]
- microcephalin 1 [ORDO Gene]
- primary autosomal recessive microcephaly 1 [DO Concept]
MeSH term(s) associated for indexing
- microcephaly [MeSH Descriptor]
Record concept(s)
- microcephaly, primary autosomal recessive, 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly 1, primary, autosomal recessive [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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