Spherocytosis, type 5

Preferred Label : Spherocytosis, type 5;

Symbol : SPH5;

CISMeF acronym : HS5; SPH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spherocytosis, hereditary, 5; HS5;

Prefixed ID : #612690;

Details

Origin ID

612690;

UMLS CUI

C2675192;

Automatic exact mappings (from CISMeF team)
- hereditary spherocytosis type 5 [DO Concept]
Broader ORDO disease(s)
- Hereditary spherocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- spherocytosis, type 5 [MeSH concept]
- spherocytosis, type 5 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spherocytosis type 5 [DO Concept]
Genes related to phenotype
- Protein 4.2, erythrocytic [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Jaundice [HPO term]
- Reticulocytosis [HPO term]
- Spherocytosis [HPO term]
- Splenomegaly [HPO term]
Not associated HPO term(s)
- Abnormal leukocyte count [HPO term]
- Abnormal platelet count [HPO term]
ORDO concept(s)
- Hereditary spherocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spherocytosis, type 5 [MeSH Supplementary Concept]
- spherocytosis, type 5 [MeSH concept]

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