loading...| Preferred Name |
ANTERIOR SEGMENT DYSGENESIS 3 |
|
| Synonyms |
IRID1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/601631 |
|
| altLabel |
IRID1 IRIS HYPOPLASIA WITH GLAUCOMA GLAUCOMA IRIDOGONIODYSPLASIA, FAMILIAL IGDA IRIDOGONIODYSGENESIS, TYPE 1 IRIDOGONIODYSGENESIS ANOMALY, AUTOSOMAL DOMINANT ASGD3 |
|
| cui |
C1866560 C1866561 C1839928 |
|
| Gene Locus |
6p25 |
|
| Gene Symbol |
FOXC1 IRID1 FKHL7 RIEG3 FREAC3 ASGD3 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU009480 http://purl.bioontology.org/ontology/OMIM/MTHU010162 http://purl.bioontology.org/ontology/OMIM/MTHU004040 http://purl.bioontology.org/ontology/OMIM/MTHU017307 http://purl.bioontology.org/ontology/OMIM/MTHU033248 http://purl.bioontology.org/ontology/OMIM/MTHU000619 http://purl.bioontology.org/ontology/OMIM/MTHU015095 http://purl.bioontology.org/ontology/OMIM/MTHU033247 http://purl.bioontology.org/ontology/OMIM/MTHU009726 http://purl.bioontology.org/ontology/OMIM/MTHU037209 http://purl.bioontology.org/ontology/OMIM/MTHU033249 http://purl.bioontology.org/ontology/OMIM/MTHU033246 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
601631 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ANTERIOR SEGMENT DYSGENESIS 3 |
|
| Scope Statement |
Caused by mutation in the forkhead, Drosophila, homolog-like 7 gene (FOXC1, 601090.0001) [MOLECULAR BASIS] Variable features may be present [MISCELLANEOUS] |
|
| tui |
T047 |