Disease Directory

Phelan-McDermid syndrome is a neurodevelopmental condition that primarily affects the brain, muscles, and several other body systems. It is most often...

Phelan-McDermid syndrome due to 22q13.3 deletion is a rare condition identified in part by its connection to a deletion on the end of chromosome 22. T...

Phelan-McDermid syndrome is associated with mutations in the SHANK3 gene, which plays a critical role in synaptic function. However, specific genetic...

Philadelphia-positive myelogenous leukemia is a rare disease. Detailed information about this condition is currently limited in medical literature.

Pick disease is a rare neurodegenerative disorder that primarily leads to dementia. It is marked by frontotemporal lobar degeneration, where the front...

Pierpont syndrome is a rare subcutaneous tissue disorder. It presents with low muscle tone (axial hypotonia) after birth, feeding difficulties that la...

Pierre Robin sequence with pectus excavatum and rib and scapular anomalies is a rare condition that involves features of the Pierre Robin sequence alo...

Pierre Robin syndrome-faciodigital anomaly syndrome is a rare condition that features a combination of the Pierre Robin sequence and distinct facial a...

Pierson syndrome is a rare condition that mainly affects the kidneys and eyes. It is defined by the combination of congenital nephrotic syndrome — a k...

Pilarowski-Bjornsson syndrome (also known as PILBOS or developmental delay and speech apraxia with or without seizures) is a rare condition that has b...

Pitt-Hopkins syndrome is a neurodevelopmental condition that primarily affects the brain, face, and autonomic nervous system. It results from alterati...

Pitt-Hopkins-like syndrome is a rare genetic disorder that primarily affects neurodevelopment and is characterized by severe intellectual disability,...

Pitt-Hopkins-like syndrome 2 is a neurodevelopmental condition caused by mutations in the NRXN1 gene. The disorder is primarily characterized by centr...

Plasmodium falciparum malaria is a serious illness caused by a parasite called Plasmodium falciparum. This parasite is spread by the bite of an infect...

Plasmodium malariae malaria is a type of malaria caused by the Plasmodium malariae parasite. Currently, there are no identified genes associated with...

Plasmodium ovale malaria is a type of malaria caused by the Plasmodium ovale parasite. While the genetic basis and inheritance patterns are not well e...

Plasmodium vivax malaria is a type of malaria that occurs when a person is infected with the Plasmodium vivax parasite. This condition is caused by a...

Plummer-Vinson syndrome, also known as Paterson-Kelly syndrome among other names, is a condition marked by a classic combination of symptoms. It prese...

Poirier-Bienvenu neurodevelopmental syndrome, also known as POBINDS, is a rare neurodevelopmental disorder. Although a detailed definition is not avai...

Poland syndrome is a rare condition in which a key chest muscle, the pectoralis major, is either missing or underdeveloped on one side of the body. Th...