Disease Directory

Guillain-Barre syndrome, familial is a form of Guillain-Barre syndrome in which a genetic predisposition plays a role in the development of the illnes...

Guttmacher syndrome is an extremely rare condition characterized by several limb abnormalities. People with this syndrome may show underdeveloped thum...

H syndrome is an inherited condition that affects multiple parts of the body. It is characterized by particular skin changes along with effects on int...

HAVCR2-related cancer predisposition is a hereditary condition caused by changes in the HAVCR2 gene. People with this condition have a higher chance o...

HBA1-related alpha thalassemia spectrum, also known as alpha-thalassemia trait, is a condition caused by changes in the HBA1 gene. These genetic chang...

HBA1; HBA2-related digenic alpha thalassemia spectrum is a condition that causes mild microcytic anemia. This condition occurs because of variations i...

HBA2-related alpha thalassemia spectrum is a condition that leads to mild microcytic anemia. This means that the red blood cells are smaller than usua...

HEC syndrome is a very rare condition that has been described in two children. It is characterized by communicating hydrocephalus (an abnormal buildup...

HELIOS deficiency is a rare, non-severe combined immunodeficiency caused by a change in the IKZF2 gene. In this condition, the gene does not work as i...

HELIX syndrome is a rare condition with several features that affect different parts of the body. The name HELIX comes from the key characteristics se...

HELLP syndrome is a serious condition that can complicate pregnancy. Its name comes from the three main features: Hemolysis (the breakdown of red bloo...

HGSNAT-related retinopathy is an isolated eye condition caused by changes in the HGSNAT gene. These gene variants affect the normal function of the re...

HHV-6 encephalitis is a brain inflammation caused by an infection with the human herpesvirus 6. This condition can occur in people after an allogeneic...

HIV wasting syndrome is a condition seen in individuals with HIV infection that is characterized by significant involuntary weight loss, prolonged fev...

HIV-associated cancer refers to a group of malignancies that occur in individuals with HIV infection, often as a consequence of long-standing immune s...

HIV-associated nephropathy is a kidney disorder seen in individuals infected with human immunodeficiency virus (HIV). This condition presents primaril...

HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome is a rare disorder caused by a change in the HMGB1 gene. It is a complex malform...

HSD10 disease, atypical type is a rare condition that is also known by several names, including X-linked intellectual disability-choreoathetosis-abnor...

HSD10 disease, infantile type is a rare neurometabolic disorder that typically shows normal development until about 6 to 18 months of age. After this...

HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It typically appears in the neonatal period, a...