loading...| Preferred Name |
EXUDATIVE VITREORETINOPATHY 1 |
| Synonyms |
RETINOPATHY OF PREMATURITY |
| ID |
http://purl.bioontology.org/ontology/OMIM/133780 |
| altLabel |
RETINOPATHY OF PREMATURITY ROP CRISWICK-SCHEPENS SYNDROME EVR1 EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT FEVR, AUTOSOMAL DOMINANT |
| cui |
C0035344 C1851402 |
| Gene Locus |
11q14-q21 |
| Gene Symbol |
FZD4 EVR1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018211 http://purl.bioontology.org/ontology/OMIM/MTHU041274 http://purl.bioontology.org/ontology/OMIM/MTHU036749 http://purl.bioontology.org/ontology/OMIM/MTHU005721 http://purl.bioontology.org/ontology/OMIM/MTHU005717 http://purl.bioontology.org/ontology/OMIM/MTHU018216 http://purl.bioontology.org/ontology/OMIM/MTHU018214 http://purl.bioontology.org/ontology/OMIM/MTHU005719 http://purl.bioontology.org/ontology/OMIM/MTHU041273 http://purl.bioontology.org/ontology/OMIM/MTHU018212 http://purl.bioontology.org/ontology/OMIM/MTHU001845 http://purl.bioontology.org/ontology/OMIM/MTHU018213 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
133780 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EXUDATIVE VITREORETINOPATHY 1 |
| Scope Statement |
Genetic heterogeneity, see EVR2 (305390), EVR3 (605750), and EVR4 (601813) [MISCELLANEOUS] Caused by mutation in the frizzled 4 gene (FZD4, 604579.0001) [MOLECULAR BASIS] Absence of premature birth, low birthweight, and exposure to oxygen [MISCELLANEOUS] Clinical variability [MISCELLANEOUS] Slowly progressive disorder [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] Some patients may be asymptomatic [MISCELLANEOUS] |
| tui |
T047 |