Disease Directory

Autosomal recessive osteopetrosis 2 is a condition characterized by abnormally dense bones resulting from a deficiency in osteoclast function. It is c...

Autosomal recessive osteopetrosis 3 is a very rare condition that affects the skeleton, kidneys, and nervous system. It results from pathogenic varian...

Autosomal recessive osteopetrosis 4 is a serious inherited bone disorder that affects multiple body systems beginning in infancy. It is caused by harm...

Autosomal recessive osteopetrosis 5 is a severe form of malignant osteopetrosis that primarily affects infants and involves abnormalities in bone remo...

Autosomal recessive osteopetrosis 6 is a hereditary skeletal condition in which bones become abnormally dense yet fragile, leading to a unique combina...

Autosomal recessive osteopetrosis 7 is a very rare inherited bone disorder in which the bones become overly dense and brittle, leading to a range of h...

Autosomal recessive osteopetrosis 8 is a disorder that primarily affects bone and blood formation, leading to abnormally dense yet fragile bones and a...

Autosomal recessive palmoplantar keratoderma and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and...

Autosomal recessive pericentral pigmentary retinopathy is characterized by the inheritance pattern of autosomal recessive, which means that both copie...

Autosomal recessive polycystic kidney disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity is a condition affecting the immune system, p...

Autosomal recessive primary microcephaly is a disorder of early brain development characterized by a head circumference that is significantly smaller...

autosomal recessive progressive external ophthalmoplegia is an extremely rare condition. Because few cases have been documented, detailed clinical inf...

Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a multisystem condition that primarily affects how the kidneys handle bicarbonate, an...

Autosomal recessive secondary polycythemia not associated with VHL gene is a rare condition that has been described under several names, including aut...

Autosomal recessive severe congenital neutropenia is a condition that primarily affects the immune system by reducing the number of neutrophils, the w...

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency is caused by variants in the CSF3R gene. This condition is characterized by...

autosomal recessive severe congenital neutropenia due to CXCR2 deficiency is an extremely rare condition. Because few cases have been documented, deta...

Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency is a disorder primarily affecting blood cell production and multiple organ s...

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is characterized by a deficiency of neutrophils, which are crucial for fight...