Disease Directory

PMP22-RAI1 contiguous gene duplication syndrome, also known by several names such as 17p11.2p12 microduplication syndrome, YUHAL, and Yuan-Harel-Lupsk...

PNPLA6-related spastic paraplegia with or without ataxia is a multisystem condition that is inherited in an autosomal recessive manner. This means tha...

POEMS syndrome is a rare condition that stands for a group of features: polyradiculoneuropathy (nerve problems), organomegaly (enlarged organs), endoc...

POLD1-related polyposis and colorectal cancer syndrome is an inherited condition caused by changes in the POLD1 gene. It is inherited in an autosomal...

POLD2-related combined immunodeficiency is a condition where there is a non-severe combined immunodeficiency caused by a deficiency in polymerase delt...

POLD3-related combined immunodeficiency is a disorder that affects the immune system. This condition is caused by a variation in the POLD3 gene, which...

POLE-related polyposis and colorectal cancer syndrome is a hereditary condition caused by changes in the POLE gene. It is inherited in an autosomal do...

POLR-related leukodystrophy, also known as 4H leukodystrophy, is a rare genetic disorder affecting the white matter in the brain. It is described as a...

POLR3-related leukodystrophy is a type of hypomyelinating leukodystrophy disorder. It is caused by variations in genes that encode subunits of RNA pol...

Information about overview is currently limited for this condition.

Information about the overview is currently limited for this condition.

PPoma is a rare type of pancreatic endocrine tumor that overproduces a substance called pancreatic polypeptide (PP) but does not lead to a typical hor...

Information about overview is currently limited for this condition.

PRKAG2-related cardiomyopathy is a metabolic heart condition caused by a change in the PRKAG2 gene. This change leads to abnormal energy use in heart...

PRKAR1B-related neurodegenerative dementia with intermediate filaments is a rare condition that affects the nervous system. Detailed information about...

PROM1-related dominant retinopathy is a condition that affects the retina, the light-sensitive tissue at the back of the eye. It is caused by changes...

PROM1-related recessive retinopathy is a condition in which the retina, the light-sensitive tissue at the back of the eye, is affected by changes in t...

PROM1-related retinopathy is a condition that affects the retina, the part of the eye responsible for sensing light and sending visual information to...

PRPF31-related retinopathy is an inherited eye condition that affects the retina. It is caused by changes in the PRPF31 gene, which is essential for n...

PRPF8-related retinopathy is a type of retinal condition caused by a variant in the PRPF8 gene. The retina is the light-sensitive layer at the back of...