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loading...| Preferred Name |
GLAUCOMA 3, PRIMARY CONGENITAL, A |
| Synonyms |
BUPHTHALMOS |
| ID |
http://purl.bioontology.org/ontology/OMIM/231300 |
| altLabel |
BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET GLC3A GLC3 GLAUCOMA, CONGENITAL GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET |
| cui |
C1856439 C3278152 C4551507 C3278153 C0020302 |
| Gene Locus |
2p22-p21 |
| Gene Symbol |
CYP1B1 GLC3A ASGD6 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012748 http://purl.bioontology.org/ontology/OMIM/MTHU012746 http://purl.bioontology.org/ontology/OMIM/MTHU012749 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
231500 |
| notation |
231300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
GLAUCOMA 3, PRIMARY CONGENITAL, A |
| Scope Statement |
Genetic heterogeneity [MISCELLANEOUS] Caused by mutations in the cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 gene (CYP1B1, 601771.0001) [MOLECULAR BASIS] |
| tui |
T019 T047 |
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