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loading...| Preferred Name |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 |
| Synonyms |
MCOPCB5 |
| ID |
http://purl.bioontology.org/ontology/OMIM/611638 |
| altLabel |
MCOPCB5 |
| cui |
C1968843 |
| Gene Locus |
7q36 |
| Gene Symbol |
HLP3 MCOPCB5 SMMCI HPE3 SHH |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036526 http://purl.bioontology.org/ontology/OMIM/MTHU036094 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
611638 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 |
| Scope Statement |
Reduced penetrance [MISCELLANEOUS] Caused by mutation in the sonic hedgehog gene (SHH, 600725.0016) [MOLECULAR BASIS] |
| tui |
T047 |