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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/188025
http://purl.bioontology.org/ontology/OMIM/188025
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|---|---|
| Preferred Name | THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE |
| Synonyms |
TCPT
CHROMOSOME 11q23 DELETION SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TCPT
CHROMOSOME 11q23 DELETION SYNDROME
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|---|---|
| prefLabel | THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE
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| Gene Symbol | TCPT
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| Scope Statement | A contiguous gene syndrome caused by deletion of the friend leukemia virus integration 1 gene (FLI1, 193067) and perhaps other genes in 11q23 [MOLECULAR BASIS]
Paris-Trousseau thrombocytopenia can occur in Jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23 [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 11q23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 188025
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1956093
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| Moved from | 600588
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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