Elliptocytosis 2

Preferred Label : Elliptocytosis 2;

Symbol : EL2;

CISMeF acronym : EL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Elliptocytosis, rhesus-unlinked type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the spectrin, alpha, erythrocytic-1 gene (SPTA1, 182860.0001);

Prefixed ID : #130600;

Details

Origin ID

130600;

UMLS CUI

C1851741;

Automatic exact mappings (from CISMeF team)
- SPTA1 wt Allele [NCIt concept]
- spectrin alpha, erythrocytic 1 [ORDO Gene]
- spectrin alpha, erythrocytic 1 [HGNC gene]
Broader ORDO disease(s)
- Hereditary elliptocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- elliptocytosis 2 [MeSH concept]
- elliptocytosis 2 [MeSH Supplementary Concept]
DO Cross reference
- hereditary elliptocytosis [DO Concept]
Genes related to phenotype
- Spectrin, alpha, erythrocytic 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elliptocytosis [HPO term]
- Hemolytic anemia [HPO term]
- Heterogeneous [HPO term]
- Neonatal hyperbilirubinemia [HPO term]
- Reticulocytosis [HPO term]
ORDO concept(s)
- Hereditary elliptocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- elliptocytosis 2 [MeSH Supplementary Concept]
- elliptocytosis 2 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary elliptocytosis [ORDO Disease]

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