Spectrin, beta, erythrocytic

Preferred Label : Spectrin, beta, erythrocytic;

Symbol : SPTB;

CISMeF acronym : SPTB;

Type : Gene;

Alternative titles and symbols : Spectrin, beta-I;

Inheritance : Autosomal dominant (14q23-q24.2);

Ensembl ID : ENSG00000070182;

Prefixed ID : *182870;

Details

Origin ID

182870;

UMLS CUI

C1420387;

Automatic exact mappings (from CISMeF team)
- spectrin beta, erythrocytic [HGNC gene]
Currated CISMeF NLP mapping
- spectrin beta, erythrocytic [ORDO Gene]
HGNC gene
- spectrin beta, erythrocytic [HGNC gene]
ORDO concept(s)
- spectrin beta, erythrocytic [ORDO Gene]
Phenotypes related
- Elliptocytosis 3 [OMIM Phenotype]
- Spherocytosis, type 2 [OMIM Phenotype]
Related ORDO disease(s)
- Hereditary spherocytosis [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- spectrin beta, erythrocytic [ORDO Gene]
- spectrin beta, erythrocytic [HGNC gene]

Keyword's position in hierarchy(ies) :

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