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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/615147
http://purl.bioontology.org/ontology/OMIM/615147
|
|---|---|
| Preferred Name | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME |
| Synonyms |
RDCCAS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | RDCCAS
|
|---|---|
| prefLabel | RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
|
| Gene Symbol |
MCOPCB10
RBP4
RDCCAS
|
| notation | 615147
|
| Scope Statement | Caused by mutation in the retinol-binding protein 4 gene (RBP4, 180250.0001) [MOLECULAR BASIS]
Patients have normal levels of vitamin A, beta-carotene, and zinc [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 10q24
|
| tui | T047
|
| cui | C3554593
|
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