Disease Directory

Paris-Trousseau thrombocytopenia (TCPT) is a genetic condition known as a contiguous gene syndrome. This means that a group of genes in a specific reg...

Information about the overview is currently limited for this condition. No detailed definition or description is available from the provided sources.

Parkinson disease 12, also known as PARK12 or Parkinson disease, X-linked, is a rare condition linked to changes in the PARK12 gene. It is noted in da...

Parkinson disease 17 is a form of Parkinson disease that occurs when there is a mutation in the VPS35 gene. This genetic change disrupts normal cellul...

Parkinson disease 19B, early-onset is a rare disease. Detailed information about this condition is currently limited in medical literature.

Parkinson disease 21, also known as PARK21 or Parkinson disease type 21, is a rare condition with limited detailed information available in current so...

Parkinson disease 22, autosomal dominant is a form of Parkinson disease where the condition is caused by a mutation in the CHCHD2 gene. This means tha...

Parkinson disease 3, autosomal dominant is a rare form of Parkinson disease that is inherited in an autosomal dominant pattern. Although detailed defi...

Partington syndrome is a rare neurological condition that primarily affects males. It is most noted for mild to moderate intellectual disability and h...

Patterson-Stevenson-Fontaine syndrome is a very rare condition that falls under the category of acrofacial dysostosis. It is mainly characterized by d...

Pauci-immune glomerulonephritis is a type of rapidly progressive kidney inflammation. It causes severe kidney problems over days or weeks by damaging...

Pearson syndrome is a mitochondrial disorder that predominantly affects multiple organ systems, most the bone marrow and exocrine pancreas. It is char...

Pelger-Huet anomaly is an inherited condition that primarily affects neutrophils, a type of white blood cell. It is caused by changes in the LBR gene,...

Pelger-Huet-like anomaly and episodic fever with abdominal pain is a rare autoinflammatory condition. It is characterized by problems in the immune sy...

Pelizaeus-Merzbacher disease in female carriers is a rare condition that occurs in some women carrying mutations in the PLP1 gene, located on the Xq22...

Pelizaeus-Merzbacher disease, classic form is a rare neurodevelopmental condition that primarily affects the brain's ability to form normal myelin, a...

Pelizaeus-Merzbacher disease, connatal form is the most severe presentation of this white matter disorder affecting the central nervous system. Affect...

Pelizaeus-Merzbacher disease, transitional form, also known as transitional PMD, is described as the intermediate form of PMD. It represents a state b...

Pelizaeus-Merzbacher-like disease (PMLD) is a form of leukodystrophy that is inherited in an autosomal recessive pattern. This means that people with...

Pelizeaus-Merzbacher spectrum disorder is an X-linked leukodystrophy that primarily affects the central nervous system, leading to impaired myelinatio...