FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term retinal macular dystrophy 2 ID (Ontology) DOID:0070517 (Human Disease)
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.
Also Known As "MCDR2"
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 retinal macular dystrophy 2       2      1
 for disease ribbon | retinal macular dystrophy 2       2       --
 model of | retinal macular dystrophy 2       2       --
Spanning Tree (Parents/Children)
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autosomal dominant disease__
macular degeneration________|
                            retinal macular dystrophy
                             |__retinal macular dystrophy 2  3 rec.
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Is a retinal macular dystrophy
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Synonyms
  • "MCDR2" EXACT OMO:0003012
Secondary IDs
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MESH:C562746
MIM:608051
ORDO:319640
SNOMEDCT_US_2023_03_01:770594005
UMLS_CUI:C4749334