Inosine triphosphatase deficiency

Preferred Label : Inosine triphosphatase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Inosine triphosphate pyrophosphohydrolase deficiency;

Description : Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002).;

Prefixed ID : #613850;

Détails

Origin ID

613850;

UMLS CUI

C0342800;

Currated CISMeF NLP mapping
- Inosine Triphosphatase Deficiency [NCIt concept]
- Inosine triphosphatase deficiency [ORDO Disease]
- Inosine triphosphate pyrophosphohydrolase deficiency [ICD-11 More detail]
- Inosine triphosphate pyrophosphohydrolase deficiency (disorder) [SNOMED CT concept]
- inosine triphosphatase deficiency [MeSH concept]
- inosine triphosphatase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Inosine triphosphatase [OMIM gene]
ORDO concept(s)
- Inosine triphosphatase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Inosine Triphosphatase Deficiency [NCIt concept]
- Inosine triphosphatase deficiency [ORDO Disease]
- Inosine triphosphate pyrophosphohydrolase deficiency [ICD-11 More detail]
- Inosine triphosphate pyrophosphohydrolase deficiency (disorder) [SNOMED CT concept]
- inosine triphosphatase deficiency [MeSH Supplementary Concept]
- inosine triphosphatase deficiency [MeSH concept]

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

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