loading...| Preferred Name |
THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE |
| Synonyms |
TCPT |
| ID |
http://purl.bioontology.org/ontology/OMIM/188025 |
| altLabel |
TCPT CHROMOSOME 11q23 DELETION SYNDROME |
| cui |
C1956093 |
| Gene Locus |
11q23 |
| Gene Symbol |
TCPT |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015294 http://purl.bioontology.org/ontology/OMIM/MTHU015292 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU015296 http://purl.bioontology.org/ontology/OMIM/MTHU015291 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU015295 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU036885 http://purl.bioontology.org/ontology/OMIM/MTHU000576 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
600588 |
| notation |
188025 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE |
| Scope Statement |
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] 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] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D054868 | Medical Subject Headings / 医学主题词表 | CUI |