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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613575
http://purl.bioontology.org/ontology/OMIM/613575
|
|---|---|
| Preferred Name | RETINITIS PIGMENTOSA 55 |
| Synonyms |
RP55
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | RP55
|
|---|---|
| prefLabel | RETINITIS PIGMENTOSA 55
|
| Gene Symbol |
BBS3
ARL6
RP55
|
| Scope Statement | Caused by mutation in the ADP ribosylation factor-like GTPase 6 gene (ARL6, 608845.0006) [MOLECULAR BASIS]
Onset of symptoms in early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 3p12-q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613575
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150808
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |