Disease Directory

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

Autosomal dominant striatal neurodegeneration type 1 is a neurological condition that primarily affects movement due to dysfunction in the striatal pa...

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

autosomal dominant trichoodontoonychodysplasia-syndactyly is an extremely rare condition. Because few cases have been documented, detailed clinical in...

Autosomal dominant vibratory urticaria is a very rare condition characterized by localized hives and systemic symptoms triggered by skin vibration. Th...

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder affecting the vitreous and retina, characterized by developmental ano...

Autosomal dominant wooly hair (ADWH) is characterized by hair that is woolly, coarse, slow-growing, and dry. This condition is associated with variant...

Autosomal erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that leads to an accumulation of protoporphyrin i...

Autosomal recessive Alport syndrome is a genetic condition that predominantly affects the kidneys, ears, and eyes. It is caused by mutations in both c...

autosomal recessive Ehlers-Danlos syndrome, vascular type is an extremely rare condition. Because few cases have been documented, detailed clinical in...

Autosomal recessive Kenny-Caffey syndrome is a genetic condition primarily affecting skeletal development and parathyroid function. It is caused by mu...

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency is an extremely rare condition. Because f...

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency is an extremely rare condition. Because fe...

autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency is an extremely rare condition. Because fe...

Autosomal recessive Parkinson disease 14 is an uncommon neurodegenerative movement disorder that primarily affects the brain’s motor pathways. It is c...

Autosomal recessive Robinow syndrome is a skeletal dysplasia that affects bone growth, facial development, and the external genitalia. It is caused by...

Autosomal recessive agammaglobulinemia 1 is a primary immunodeficiency that primarily affects the immune system, leading to markedly reduced or absent...

Autosomal recessive amelia is a rare genetic condition characterized by the absence of upper limbs and significant underdevelopment of the lower limbs...

autosomal recessive ataxia due to PEX10 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

autosomal recessive ataxia due to PEX16 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical informati...