Disease Directory

Autosomal dominant distal renal tubular acidosis is a kidney disorder in which the ability to acidify urine is reduced. This condition is caused by pa...

autosomal dominant dopa-responsive dystonia is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

Autosomal dominant epidermolytic ichthyosis is a rare skin disorder characterized by severe skin manifestations. While no specific genes or inheritanc...

Autosomal dominant epilepsy with auditory features (ADEAF) is a rare genetic condition characterized by focal seizures that are often accompanied by a...

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, often called HANAC syndrome, is a very rare inherited disor...

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical...

Autosomal dominant hyperinsulinism due to SUR1 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical in...

Autosomal dominant hypocalcemia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autosomal dominant hypocalcemia 1 is a mineral-balance disorder that primarily affects how the body regulates calcium and related electrolytes. It is...

Autosomal dominant hypocalcemia 2 is a condition that primarily affects calcium regulation in the body, leading to consistently low blood calcium leve...

autosomal dominant hypohidrotic ectodermal dysplasia is an extremely rare condition. Because few cases have been documented, detailed clinical informa...

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder caused by variants in the FGF23 gene. It is charac...

Autosomal dominant ichthyosis vulgaris is a skin disorder characterized by dry, scaly skin that typically begins in early childhood. This condition is...

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, often called KAT6A syndrome or Arboleda-Tham syndrome, is...

Autosomal dominant intermediate Charcot-Marie-Tooth disease is an extremely rare condition. Because few cases have been documented, detailed clinical...

autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is an extremely rare condition. Because few cases have been document...

Autosomal dominant keratitis is a hereditary condition characterized by opacification and vascularization of the cornea, often associated with macula...

Autosomal dominant keratitis-ichthyosis-hearing loss syndrome (often called KID syndrome) is a multisystem condition that primarily affects the skin,...

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a condition that primarily affects the muscles around the pelvic girdle, with pa...

autosomal dominant limb-girdle muscular dystrophy type 1E (DES) is an extremely rare condition. Because few cases have been documented, detailed clini...