Thrombocytopenia 4

Preferred Label : Thrombocytopenia 4;

Symbol : THC4;

CISMeF acronym : THC4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytopenia, autosomal dominant, 4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the somatic cytochrome c gene (CYCS, 123970.0001);

Prefixed ID : #612004;

Détails

Origin ID

612004;

UMLS CUI

C2677608;

Automatic exact mappings (from CISMeF team)
- Autosomal thrombocytopenia with normal platelets [ORDO Disease]
- CYCS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- thrombocytopenia 4 [MeSH concept]
- thrombocytopenia 4 [MeSH Supplementary Concept]
DO Cross reference
- thrombocytopenia [DO Concept]
Genes related to phenotype
- Cytochrome C, somatic [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Autosomal thrombocytopenia with normal platelets [ORDO Disease]
- Hereditary thrombocytopenia with normal platelets [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- thrombocytopenia 4 [MeSH Supplementary Concept]
- thrombocytopenia 4 [MeSH concept]

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

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