Disease-gene associations mined from literature

Human genes for achromatopsia

Achromatopsia [DOID:13911]

Achromatopsia (ACHM), is a medical syndrome that exhibits symptoms relating to at least five separate individual disorders. Although the term may refer to acquired disorders such as color agnosia and cerebral achromatopsia, it typically refers to an autosomal recessive congenital color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. The only estimate of its relative occurrence of 1:33,000 in the general population dates from the 1960s or earlier.

Synonyms:  achromatopsia,  DOID:13911,  ACHM,  Monochromatism,  achromatopsia (disorder) ...

Linkouts:  OMIM #1 #2 #3 #4 #5