Disease Directory

Hennekam lymphangiectasia-lymphedema syndrome 1 is a rare genetic condition that occurs when there is a mutation in the CCBE1 gene. This condition is...

Hennekam lymphangiectasia-lymphedema syndrome 2 is a rare condition that is part of the group of disorders known as Hennekam syndromes. This condition...

Hennekam syndrome is a rare condition characterized by a combination of symptoms including lymphoedema (swelling due to fluid build-up), intestinal ly...

Hennekam-Beemer syndrome is a rare condition described in just two reported cases in female individuals. It is characterized by a combination of skin...

Hermansky-Pudlak syndrome is a multi-system disorder that primarily affects pigmentation, bleeding, and organ function. It is associated with variants...

Hermansky-Pudlak syndrome 1 is a genetic condition characterized by abnormalities in pigmentation and bleeding tendencies. It is caused by mutations i...

Hermansky-Pudlak syndrome 10 is a rare form of Hermansky-Pudlak syndrome caused by a mutation in the AP3D1 gene. This condition is one of several type...

Information about overview is currently limited for this condition.

Hermansky-Pudlak syndrome 2 (HPS-2) is a type of Hermansky-Pudlak syndrome, a rare, multi-system disorder. It is most known for affecting several syst...

Hermansky-Pudlak syndrome 3 is a form of Hermansky-Pudlak syndrome that is caused by a mutation in the HPS3 gene. This genetic change affects the norm...

Hermansky-Pudlak syndrome 4 is a rare genetic condition that is part of the larger group of Hermansky-Pudlak syndromes. It occurs due to a mutation in...

Hermansky-Pudlak syndrome 5 (HPS5) is a rare genetic disorder caused by a mutation in the HPS5 gene. It is one of several types of Hermansky-Pudlak sy...

Hermansky-Pudlak syndrome 6 is a rare inherited disorder caused by a mutation in the HPS6 gene. It belongs to a group of conditions known as Hermansky...

Hermansky-Pudlak syndrome 7 is a rare genetic condition caused by a mutation in the DTNBP1 gene. It is one of several types of Hermansky-Pudlak syndro...

Hermansky-Pudlak syndrome 8 is a rare genetic disorder. It is one type of Hermansky-Pudlak syndrome where a change in the BLOC1S3 gene causes the cond...

Hermansky-Pudlak syndrome 9 is a rare inherited condition that occurs due to a mutation in the BLOC1S6 gene. This disorder is part of the Hermansky-Pu...

Hermansky-Pudlak syndrome with pulmonary fibrosis is a multi-system disorder that affects several parts of the body. It is most commonly known for its...

Hermansky-Pudlak syndrome without pulmonary fibrosis is a form of a multi-system disorder that affects several parts of the body. This condition inclu...

Hernández-Aguirre Negrete syndrome is a very rare condition that has been described in a small number of children from two unrelated Mexican families....

Heyn-Sproul-Jackson syndrome is a rare condition sometimes referred to by its descriptive name: Microcephaly, Short Stature, and Impaired Intellectual...