congenital microcoria
http://purl.obolibrary.org/obo/MONDO_0007989
Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. [ Orphanet:566 ]
Term info
- GARD:0003635 (MONDO:equivalentTo)
- Orphanet:566 (OMIM:156600)
- OMIM:156600 (Orphanet:566/e)
- MESH:C537550 (Orphanet:566/e)
- SCTID:400962005 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/4069
Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.
http://purl.obolibrary.org/obo/Orphanet_566, https://omim.org/entry/156600, http://identifiers.org/snomedct/400962005, http://identifiers.org/mesh/C537550
congenital miosis
microcoria, congenital, chromosome 13Q32 deletion syndrome, miosis, congenital, pinhole pupils, Mcor
MONDO:0007989
https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital