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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300707
http://purl.bioontology.org/ontology/OMIM/300707
|
|---|---|
| Preferred Name | TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS |
| Synonyms |
STAR SYNDROME
STAR
SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
STAR SYNDROME
STAR
SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
|
|---|---|
| prefLabel | TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
|
| Gene Symbol |
STAR
CCNQ
FAM58A
|
| Scope Statement | Specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features [MISCELLANEOUS]
Caused by mutation in the cyclin Q gene (CCNQ, 300708.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui |
T047
T019
|
| Gene Locus | Xq28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 300707
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2678045
|
| Moved from | 601446
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |