Spherocytosis, type 4

Preferred Label : Spherocytosis, type 4;

Symbol : SPH4;

CISMeF acronym : HS4; SPH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spherocytosis, hereditary, 4; HS4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the red cell membrane band 3 gene (SLC4A1, 109270.0003);

Laboratory abnormalities : Hyperbilirubinemia; Pseudohyperkalemia (in some patients);

Prefixed ID : #612653;

Details

Origin ID

612653;

UMLS CUI

C2675212;

Automatic exact mappings (from CISMeF team)
- hereditary spherocytosis type 4 [DO Concept]
Broader ORDO disease(s)
- Hereditary spherocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- spherocytosis, type 4 [MeSH concept]
- spherocytosis, type 4 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spherocytosis type 4 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Hyperbilirubinemia [HPO term]
- Increased red cell osmotic fragility [HPO term]
- Jaundice [HPO term]
- Reticulocytosis [HPO term]
- Spherocytosis [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Hereditary spherocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spherocytosis, type 4 [MeSH Supplementary Concept]
- spherocytosis, type 4 [MeSH concept]

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