Disease Index

human disease

human disease

human disease

Very rare genetic disease involving ocular abnormalities and cardiac abnormalities.

Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities

human disease

syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule

human disease

human disease

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations

Human disease

autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes

medical condition

oculocutaneous albinism that has material basis in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13

oculocutaneous albinism that has material basis in an autosomal recessive mutation of TYRP1 on chromosome 9p23

oculocutaneous albinism that has material basis in an autosomal recessive mutation of SLC45A2 on chromosome 5p13.2

disease

oculocutaneous albinism that has material basis in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity

oculocutaneous albinism that has material basis in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity

oculocutaneous albinism that has material basis in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3

human disease

human disease

human disease

The absence or defect of controlled, voluntary, and purposeful eye movement

human disease

human disease

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness

medical condition

human disease