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DOID:0070439 - North Carolina macular dystrophy
Disease Ontology Definition:A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
Synonyms: central areolar pigment epithelial dystrophy, central retinal pigment epithelial dystrophy, MCDR1, NCMD, progressive foveal dystrophy, retinal macular dystrophy 1
Xenbase Genes
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| MIM:136550 - MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE; MCDR1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
retinal macular dystrophy (is_a)