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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612004
http://purl.bioontology.org/ontology/OMIM/612004
|
|---|---|
| Preferred Name | THROMBOCYTOPENIA 4 |
| Synonyms |
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
THC4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
THC4
|
|---|---|
| prefLabel | THROMBOCYTOPENIA 4
|
| Gene Symbol |
CYCS
THC4
CYC
|
| Scope Statement | Two unrelated families have been reported (last curated February 2015) [MISCELLANEOUS]
Caused by mutation in the somatic cytochrome c gene (CYCS, 123970.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 7p15.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612004
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2677608
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |