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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616737
http://purl.bioontology.org/ontology/OMIM/616737
|
|---|---|
| Preferred Name | TAKENOUCHI-KOSAKI SYNDROME |
| Synonyms |
TKS
MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TKS
MACROTHROMBOCYTOPENIA AND MENTAL RETARDATION SYNDROME
|
|---|---|
| prefLabel | TAKENOUCHI-KOSAKI SYNDROME
|
| Gene Symbol |
TKS
CDC42
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| Scope Statement | Caused by mutation in the cell division cycle 42 gene (CDC42, 116952.0001) [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 1p36.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616737
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225222
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| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |