Search Ontology:
Human Disease
retinal macular dystrophy 2
- Term ID
- DOID:0070517
- Synonyms
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- MCDR2
- Definition
- A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. (2)
- References
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- MESH:C562746
- MIM:608051
- ORDO:319640
- SNOMEDCT_US_2023_03_01:770594005
- UMLS_CUI:C4749334
- Ontology
- Human Disease ( DOID:0070517 )
- is a type of
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Genes Involved
Zebrafish Models