Elliptocytosis 3

Preferred Label : Elliptocytosis 3;

Symbol : EL3;

CISMeF acronym : EL3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Anemia, perinatal hemolytic, fatal or near-fatal;

Prefixed ID : #617948;

Détails

Origin ID

617948;

UMLS CUI

C1866810;

Automatic exact mappings (from CISMeF team)
- elliptocytosis 3 [MeSH concept]
CISMeF manual mappings
- elliptocytosis 3 [MeSH Supplementary Concept]
Genes related to phenotype
- Spectrin, beta, erythrocytic [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chronic hemolytic anemia [HPO term]
- Decreased mean corpuscular volume [HPO term]
- Elliptocytosis [HPO term]
- Intermittent jaundice [HPO term]
- Pyropoikilocytosis [HPO term]
ORDO concept(s)
- Hereditary elliptocytosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- elliptocytosis 3 [MeSH concept]
- elliptocytosis 3 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Hereditary elliptocytosis [ORDO Disease]

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

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