structural maintenance of chromosomes flexible hinge domain containing 1

Preferred Label : structural maintenance of chromosomes flexible hinge domain containing 1;

Approved symbol HGNC : SMCHD1;

Alias symbols HGNC : FSHD2; KIAA0650;

Chromosome HGNC : 18p11.32;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000101596;

Details

Origin ID

HGNC:29090;

UMLS CUI

C1539789;

Automatic exact mappings (from CISMeF team)
- Facioscapulohumeral muscular dystrophy 2, digenic [OMIM Phenotype]
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [OMIM gene]
- structural maintenance of chromosomes flexible hinge domain containing 1 [ORDO Gene]
NCIt concept
- SMCHD1 Gene [NCIt concept]
OMIM gene
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [OMIM gene]
Orphanet gene
- structural maintenance of chromosomes flexible hinge domain containing 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Structural maintenance of chromosomes flexible hinge domain-containing protein 1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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