Spherocytosis, type 3

Preferred Label : Spherocytosis, type 3;

Symbol : SPH3;

CISMeF acronym : HS3; SPH3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HS3; Spherocytosis, hereditary, 3;

Inheritance : Autosomal recessive;

Prefixed ID : #270970;

Détails

Origin ID

270970;

UMLS CUI

C2678338;

Automatic exact mappings (from CISMeF team)
- HS 3 [MeSH Supplementary Concept]
- SPTA1 wt Allele [NCIt concept]
- hereditary spherocytosis type 3 [DO Concept]
Broader ORDO disease(s)
- Hereditary spherocytosis [ORDO Disease]
Currated CISMeF NLP mapping
- spherocytosis, type 3 [MeSH concept]
- spherocytosis, type 3 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spherocytosis type 3 [DO Concept]
Genes related to phenotype
- Spectrin, alpha, erythrocytic 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hemolytic anemia [HPO term]
- Spherocytosis [HPO term]
- severe hemolytic anemia [HPO term]
ORDO concept(s)
- Hereditary spherocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spherocytosis, type 3 [MeSH Supplementary Concept]
- spherocytosis, type 3 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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