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| Term | North Carolina macular dystrophy | ID (Ontology) | DOID:0070439 (Human Disease) |
| 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. | ||
| Also Known As | "central areolar pigment epithelial dystrophy" ; "central retinal pigment epithelial dystrophy" ; "MCDR1" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal dominant disease__ macular degeneration________| retinal macular dystrophy |__North Carolina macular dystrophy 3 rec. |
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| Is a | retinal macular dystrophy | ||
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External Crossreferences & Linkouts
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GARD:9179 MESH:C537835 MIM:136550 NCI:C168999 ORDO:75327 SNOMEDCT_US_2023_03_01:312925009 UMLS_CUI:C0730294 |
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