Disease Directory

PRPH2-related retinopathy is a type of eye condition that affects the retina. It is caused by variants in the PRPH2 gene. This gene is important for t...

PRPS1 deficiency disorder is a condition that affects the peripheral nerves. It is caused by changes in the PRPS1 gene, which lead to a decrease or im...

PSAP-related sphingolipidosis is a rare type of lysosomal storage disorder known as a sphingolipidosis. This condition is linked to changes in the PSA...

Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome. In the two reported cases, people with this conditi...

3-Phosphoserine phosphatase deficiency is an extremely rare condition that affects the body's use of the amino acid serine. In the single reported cas...

PTEN hamartoma tumor syndrome is an autosomal dominant condition caused by changes in the PTEN gene. It is characterized by the development of hamarto...

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is a very rare neurologic disorder that primarily affects infants, presenting...

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare genetic neurological condition caused by a p...

PYCR1-related de Barsy syndrome is a rare condition that is caused by a mutation in the PYCR1 gene. This means that changes in the gene, which is resp...

Pacinian tumor is a type of neurofibroma. This condition is characterized by the presence of structures that resemble Vater-Pacini corpuscles, which a...

Paget disease of bone 2, early-onset (also known as PDB2) is a rare bone condition that carries the name of Paget disease of bone with an early onset....

Paget disease of bone 3 is a rare condition that is also referred to as familial Paget disease of bone. Although a detailed definition is not availabl...

Paget disease of the nipple is a rare form of breast cancer that most often affects women between the ages of 50 and 60. It occurs when tumor cells in...

Paget disease of the penis is a rare and premalignant condition. It is defined by the presence of distinctive Paget cells in the intraepithelial tissu...

Pai syndrome is an idiopathic developmental disorder that primarily affects the face and brain. It is characterized by a median cleft of the upper lip...

Pallister-Hall syndrome (PHS) is a rare, genetic condition that affects multiple parts of the body. It is an autosomal dominant disorder, which means...

Pallister-W syndrome is a rare condition marked by intellectual challenges, seizures, and distinct facial features. Many individuals with this conditi...

Pancoast syndrome is a rare condition that occurs when a tumor, most often a non-small cell lung carcinoma, grows in the upper part of the lung (super...

Papillon-Lefevre disease is a rare condition that affects the skin and teeth. It is known as an ectodermal dysplasia, which means it can affect struct...

Parana hard-skin syndrome is a rare disorder where the skin becomes very thick and rigid, covering the entire body. This results in a significant redu...