Four-and-a-half lim domains 1

Preferred Label : Four-and-a-half lim domains 1;

Symbol : FHL1;

CISMeF acronym : FHL1;

Type : Gene;

Alternative titles and symbols : Kyot, mouse, homolog of; SLIM1; FHL1A;

Included titles and symbols : Fhl1b; Slimmer; Fhl1c;

Ensembl ID : ENSG00000022267;

Prefixed ID : *300163;

Details

Origin ID

300163;

UMLS CUI

C1414612;

Automatic exact mappings (from CISMeF team)
- CFH wt Allele [NCIt concept]
- complement factor H [ORDO Gene]
- complement factor H [HGNC gene]
- familial hemophagocytic lymphohistiocytosis 1 [DO Concept]
- four and a half LIM domains 1 [ORDO Gene]
- four and a half LIM domains 1 [HGNC gene]
- hemophagocytic lymphohistiocytosis 1 [HGNC gene]
HGNC gene
- four and a half LIM domains 1 [HGNC gene]
ORDO concept(s)
- four and a half LIM domains 1 [ORDO Gene]
Phenotypes related
- Myopathy, X-linked, with postural muscle atrophy [OMIM Phenotype]
- Reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset [OMIM Phenotype]
- Reducing body myopathy, X-linked 1b, with late childhood or adult onset [OMIM Phenotype]
- Scapuloperoneal myopathy, X-linked dominant [OMIM Phenotype]
- Uruguay faciocardiomusculoskeletal syndrome [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- four and a half LIM domains 1 [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients