Thrombocytopenia, paris-trousseau type

Preferred Label : Thrombocytopenia, paris-trousseau type;

Symbol : TCPT;

CISMeF acronym : TCPT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 11q23 deletion syndrome;

Inheritance : Isolated cases;

Molecular basis : A contiguous gene syndrome caused by deletion of the friend leukemia virus integration 1 gene (FLI1, 193067) and perhaps other genes in 11q23;

Laboratory abnormalities : Chromosome 11q23.3 deletion;

Prefixed ID : #188025;

Détails

Origin ID

188025;

UMLS CUI

C1956093;

HPO term(s)
- Abnormal bleeding [HPO term]
- Clinodactyly [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Micrognathia [HPO term]
- Prolonged bleeding time [HPO term]
- Ptosis [HPO term]
- Pyloric stenosis [HPO term]
- Radial deviation of finger [HPO term]
- Sporadic [HPO term]
- Thrombocytopenia [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Paris-Trousseau thrombocytopenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paris-Trousseau thrombocytopenia [MeSH concept]
- Paris-Trousseau thrombocytopenia [ICD-11 More detail]
- Paris-Trousseau thrombocytopenia [ORDO Disease]

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