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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614134
http://purl.bioontology.org/ontology/OMIM/614134
|
|---|---|
| Preferred Name | STICKLER SYNDROME, TYPE IV |
| Synonyms |
STL4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | STL4
|
|---|---|
| prefLabel | STICKLER SYNDROME, TYPE IV
|
| Gene Symbol |
COL9A1
EDM6
STL4
|
| Scope Statement | Caused by mutation in the collagen IX, alpha-1 polypeptide gene (COL9A1, 120210.0002) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614134
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3279941
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |