You are using an outdated browser. Please upgrade your browser to improve your experience.
achromatopsia
Disease Summary
Associated Targets (10)
Tbio
4
Tclin
2
Tchem
2
Tdark
2
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:13911
ICD10:H53.51
NCIT:C84528
Orphanet:49382
SCTID:102450007
UMLS:C0152200
MONDO:0018852
High level summary of knowledge for a disease, including descriptions and datasource references.