Disease Directory

Alopecia, androgenetic, 2 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alopecia, androgenetic, 3 is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alopecia, congenital is a condition present from birth that is characterized by little or no hair on the scalp or entire body. Although the absence of...

Alopecia, isolated is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical...

Alopecia-intellectual disability syndrome 1 is associated with variants in the AHSG gene, inherited in an autosomal recessive pattern. The clinical fe...

Alopecia-intellectual disability syndrome 2 is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

Alopecia-intellectual disability syndrome 3 is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

Alopecia-intellectual disability syndrome 4 is a condition that primarily affects neurological development and hair growth, with affected individuals...

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome is an extremely rare condition. Because few cases have been documented, detai...

Alpha 1-antitrypsin deficiency is a hereditary condition that primarily affects the liver and lungs, often manifesting in adulthood. It is caused by c...

alpha granule disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Alpha thalassemia spectrum is an inherited hemoglobinopathy characterized by impaired production of alpha-globin chains. It results from pathogenic va...

Alpha thalassemia-X-linked intellectual disability syndrome is a complex condition that primarily affects males and involves multiple organ systems. I...

Alpha thalassemia-intellectual disability syndrome type 1 (ATR-16) is a very rare contiguous gene deletion syndrome that affects blood formation and n...

Alpha-2-plasmin inhibitor deficiency is a rare inherited bleeding disorder caused by a shortage of the alpha2 antiplasmin protein, which normally help...

alpha-N-acetylgalactosaminidase deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical information is li...

Alpha-N-acetylgalactosaminidase deficiency type 1 is a very rare disorder that primarily affects the central nervous system, manifesting as infantile...

Alpha-N-acetylgalactosaminidase deficiency type 2 is a very rare adult-onset condition caused by changes in the NAGA gene. It is part of a group of di...

alpha-N-acetylgalactosaminidase deficiency type 3 is an extremely rare condition. Because few cases have been documented, detailed clinical informatio...