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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/188000
http://purl.bioontology.org/ontology/OMIM/188000
|
|---|---|
| Preferred Name | THROMBOCYTOPENIA 2 |
| Synonyms |
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
THC2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 2
THC2
|
|---|---|
| prefLabel | THROMBOCYTOPENIA 2
|
| Gene Symbol |
KIAA1074
ANKRD26
THC2
|
| Scope Statement | Caused by mutation in the ankyrin repeat domain-containing protein 26 gene (ANKRD26, 610855.0001) [MOLECULAR BASIS]
Caused by mutation in the microtubule-associated serine/threonine kinase-like gene (MASTL, 608221.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10p12.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 188000
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1861185
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |