Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Preferred Label : Structural maintenance of chromosomes flexible hinge domain-containing protein 1;

Symbol : SMCHD1;

CISMeF acronym : SMCHD1;

Type : Gene;

Alternative titles and symbols : Smc hinge domain-containing protein 1; KIAA0650;

Ensembl ID : ENSG00000101596;

Prefixed ID : *614982;

Details

Origin ID

614982;

UMLS CUI

C1539789;

Automatic exact mappings (from CISMeF team)
- structural maintenance of chromosomes flexible hinge domain containing 1 [ORDO Gene]
- structural maintenance of chromosomes flexible hinge domain containing 1 [HGNC gene]
HGNC gene
- structural maintenance of chromosomes flexible hinge domain containing 1 [HGNC gene]
NCIt concept(s)
- SMCHD1 Gene [NCIt concept]
- SMCHD1 wt Allele [NCIt concept]
- Structural Maintenance of Chromosomes Flexible Hinge Domain-Containing Protein 1 [NCIt concept]
ORDO concept(s)
- structural maintenance of chromosomes flexible hinge domain containing 1 [ORDO Gene]
Phenotypes related
- Bosma arhinia microphthalmia syndrome [OMIM Phenotype]
- Facioscapulohumeral muscular dystrophy 2, digenic [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- structural maintenance of chromosomes flexible hinge domain containing 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

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