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loading...| Preferred Name |
CATARACT 12, MULTIPLE TYPES |
| Synonyms |
CTRCT12 |
| ID |
http://purl.bioontology.org/ontology/OMIM/611597 |
| altLabel |
CTRCT12 |
| cui |
C3808115 |
| Gene Locus |
3q21-q25 |
| Gene Symbol |
CP49 BFSP2 CTRCT12 CP47 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019874 http://purl.bioontology.org/ontology/OMIM/MTHU019875 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
611597 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CATARACT 12, MULTIPLE TYPES |
| Scope Statement |
Caused by mutation in the gene encoding the beaded filament structural protein 2 (BFSP2, 603212.0001) [MOLECULAR BASIS] Phenotype may or may not be consistent within a family. [MISCELLANEOUS] |
| tui |
T047 |