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achromatopsia

Disease Summary
Associated Targets (10)
Tbio

4

Tclin

2

Tchem

2

Tdark

2


Explore Associated Targets
Mondo Description Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Disease Ontology Description A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
Mondo Term and Equivalent IDs
MONDO:0018852:  achromatopsia
ICD10:H53.51: 
NCIT:C84528: 
Orphanet:49382: 
SCTID:102450007: 
UMLS:C0152200: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)