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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616875
http://purl.bioontology.org/ontology/OMIM/616875
|
|---|---|
| Preferred Name | CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION |
| Synonyms |
CAVIPMR
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CAVIPMR
|
|---|---|
| prefLabel | CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
|
| Gene Symbol |
CAVIPMR
EMC1
KIAA0090
|
| Scope Statement | Onset from birth [MISCELLANEOUS]
Caused by mutation in the endoplasmic reticulum membrane protein complex, subunit 1 gene (EMC1, 616846.0002) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p36.13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616875
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225172
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |