Search Ontology:
Human Disease
North Carolina macular dystrophy
- Term ID
- DOID:0070439
- Synonyms
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- central areolar pigment epithelial dystrophy
- central retinal pigment epithelial dystrophy
- MCDR1
- NCMD
- progressive foveal dystrophy
- retinal macular dystrophy 1
- 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. https://pubmed.ncbi.nlm.nih.gov/36243009
- References
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- GARD:9179
- MESH:C537835
- MIM:136550
- NCI:C168999
- ORDO:75327
- SNOMEDCT_US_2023_03_01:312925009
- UMLS_CUI:C0730294
- Ontology
- Human Disease ( DOID:0070439 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models