Disease Directory

Hoyeraal-Hreidarsson syndrome is a very rare disorder that is usually passed down on the X chromosome. It is considered a severe form of dyskeratosis...

Hughes-Stovin syndrome (HSS) is a serious and life-threatening disorder. It is believed to be a cardiovascular variant of Behcet's disease and is mark...

Hunter-McAlpine craniosynostosis is a rare condition described in 10 patients. It is characterized by premature fusion of the skull bones (craniosynos...

Huntington disease (HD) is an inherited progressive disorder of the brain that blends movement difficulties with changes in thinking and behavior. It...

Huntington disease and related disorders is a group that includes Huntington disease and several other similar diseases. This condition is defined by...

Huntington disease-like 1 is a neurodegenerative disorder characterized by chorea, a type of involuntary movement, and is caused by a mutation in the...

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder that affects movement, mood, and thinking. It is part of the neuroacanthocytos...

Huntington disease-like 3 is a rare neurodegenerative condition that usually starts in childhood. People with this condition experience a progressive...

Information about the overall nature of Huntington disease-like syndrome is currently limited for this condition. This condition is also known as Hunt...

Huntington disease-like syndrome due to C9ORF72 expansions is a rare condition that shares some features with Huntington disease. It is sometimes refe...

Huppke-Brendel syndrome is a rare disorder that has been reported under several names, including acetyl CoA transporter deficiency and congenital cata...

Hurler syndrome is a severe form of mucopolysaccharidosis type 1, a lysosomal storage disorder that affects multiple organ systems including the skele...

Hurler-Scheie syndrome is a rare lysosomal storage disease. It is an intermediate form of mucopolysaccharidosis type 1 (MPS1), positioned between Hurl...

Hutchinson-Gilford progeria syndrome is a very rare, life-limiting disorder characterized by features of premature aging that become evident in early...

Hypoglossia-hypodactyly syndrome is a rare condition that primarily affects the head, face, and limbs. People with this condition are typically born w...

IDH-mutant anaplastic astrocytoma is a type of brain tumor that arises from star-shaped cells in the brain known as astrocytes. This tumor is describe...

IDH-mutant and 1p/19q-codeleted oligodendroglioma is a type of anaplastic oligodendroglioma that has a specific genetic basis. It involves a mutation...

IDH-wildtype anaplastic astrocytoma is a type of brain tumor classified as an anaplastic astrocytoma that does not have mutations in the IDH1 or IDH2...

IDH-wildtype glioblastoma is a type of brain tumor that exhibits high cellularity (dense clusters of cells) and a rapid rate of cell division. It also...

IDH3B-related retinopathy is an inherited eye condition that affects the retina, which is the light sensitive layer at the back of the eye. This condi...