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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/610202
http://purl.bioontology.org/ontology/OMIM/610202
|
|---|---|
| Preferred Name | CATARACT 21, MULTIPLE TYPES |
| Synonyms |
CCA4
CATARACT, CONGENITAL, CERULEAN TYPE, 4
CTRCT21
CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CATARACT, PULVERULENT, JUVENILE-ONSET
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CCA4
CATARACT, CONGENITAL, CERULEAN TYPE, 4
CTRCT21
CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CATARACT, PULVERULENT, JUVENILE-ONSET
|
|---|---|
| prefLabel | CATARACT 21, MULTIPLE TYPES
|
| Gene Symbol |
MAF
CCA4
CTRCT21
AYGRP
|
| Scope Statement | Caused by mutation in MAF bZIP transcription factor gene (MAF, 177075.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui |
T047
T019
|
| Gene Locus | 16q22-q23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 610202
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1857768
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |