loading...| Preferred Name |
CATARACT 21, MULTIPLE TYPES |
| Synonyms |
CCA4 |
| ID |
http://purl.bioontology.org/ontology/OMIM/610202 |
| altLabel |
CCA4 CATARACT, CONGENITAL, CERULEAN TYPE, 4 CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA CATARACT, PULVERULENT, JUVENILE-ONSET CTRCT21 |
| cui |
C1857768 |
| Gene Locus |
16q22-q23 |
| Gene Symbol |
CCA4 MAF AYGRP CTRCT21 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036526 http://purl.bioontology.org/ontology/OMIM/MTHU036449 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU050204 http://purl.bioontology.org/ontology/OMIM/MTHU050208 http://purl.bioontology.org/ontology/OMIM/MTHU050206 http://purl.bioontology.org/ontology/OMIM/MTHU042642 http://purl.bioontology.org/ontology/OMIM/MTHU050207 http://purl.bioontology.org/ontology/OMIM/MTHU050205 http://purl.bioontology.org/ontology/OMIM/MTHU050209 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
610202 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CATARACT 21, MULTIPLE TYPES |
| Scope Statement |
Caused by mutation in MAF bZIP transcription factor gene (MAF, 177075.0001) [MOLECULAR BASIS] |
| tui |
T019 T047 |