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loading...| Preferred Name |
GLAUCOMA 3, PRIMARY CONGENITAL, A |
|
| Synonyms |
BUPHTHALMOS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/231300 |
|
| altLabel |
BUPHTHALMOS GLC3A GLAUCOMA, CONGENITAL GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET GLC3 |
|
| cui |
C0020302 C1856439 C3278153 C4551507 C3278152 |
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| Gene Locus |
2p22-p21 |
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| Gene Symbol |
GLC3A CYP1B1 ASGD6 |
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| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012747 http://purl.bioontology.org/ontology/OMIM/MTHU012746 http://purl.bioontology.org/ontology/OMIM/MTHU012750 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
231500 |
|
| notation |
231300 |
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| OMIM Entry Type |
3 |
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| OMIM MimType Value |
pound |
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| prefLabel |
GLAUCOMA 3, PRIMARY CONGENITAL, A |
|
| Scope Statement |
Caused by mutations in the cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 gene (CYP1B1, 601771.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] |
|
| tui |
T047 T019 |
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