Disease Directory

Autosomal dominant nonsyndromic hearing loss 59 (DFNA59) is a type of hearing impairment characterized by its inheritance pattern, which is autosomal...

Autosomal dominant nonsyndromic hearing loss 6 is caused by mutations in the WFS1 gene. This condition is characterized by hearing loss that is not as...

Autosomal dominant nonsyndromic hearing loss 64 is a condition characterized by sensorineural hearing impairment that is linked to mutations in the DI...

Autosomal dominant nonsyndromic hearing loss 65 is an inherited condition primarily affecting the auditory system. It is caused by mutations in the TB...

Autosomal dominant nonsyndromic hearing loss 66 is a hereditary condition that primarily affects the auditory system, resulting in sensorineural heari...

Autosomal dominant nonsyndromic hearing loss 67 is caused by mutations in the OSBPL2 gene. This condition is inherited in an autosomal dominant manner...

Autosomal dominant nonsyndromic hearing loss 68 is an inherited condition that primarily affects auditory function, leading to sensorineural hearing i...

Autosomal dominant nonsyndromic hearing loss 69 is caused by mutations in the KITLG gene. This condition is characterized by hearing loss that is not...

Autosomal dominant nonsyndromic hearing loss 7 (DFNA7) is characterized by progressive high-tone hearing loss and is caused by variations in the LMX1A...

Autosomal dominant nonsyndromic hearing loss 70 is an inherited condition that primarily affects auditory function. It is caused by mutations in the M...

Autosomal dominant nonsyndromic hearing loss 9 (ADNSHL9) is caused by mutations in the COCH gene. This condition is characterized by hearing loss that...

Autosomal dominant oculocutaneous albinism is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Autosomal dominant omodysplasia is a very rare genetic bone growth disorder passed down in an autosomal dominant pattern. It affects how the long bone...

autosomal dominant optic atrophy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is characterized by progressive visual loss typically beginning in early childhood...

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) characterized by optic atrophy acco...

Autosomal dominant optic atrophy, classic form, is an inherited eye disorder in which damage to the optic nerves causes progressive loss of vision, us...

Autosomal dominant osteopetrosis is a rare bone disorder characterized by the abnormal density of bones due to impaired osteoclast function, leading t...

Autosomal dominant osteopetrosis 1 is a sclerosing bone disorder that primarily affects the cranial vault, leading to increased bone density. This con...

Autosomal dominant osteopetrosis 2 is a sclerosing disorder of the skeleton characterized by abnormally dense bones and the classic radiographic findi...