Reese retinal dysplasia is a congenital dysplasia of the retina in the presence of a primary vitreous body.
Renpenning Syndrome is an x-linked disorder that describes the symptom complex of mental retardation, microcephaly, leanness and mild dwarfism.
Reardon-Hall-Slaney syndrome is a very rare autosomal recessive disease and belongs to the mesomelic dysplasia.
RAPADILINO is an acronym of the following symptoms, which together describe the eponymous syndrome: radial defects (Ra), patella aplasia (PA), diarrhea and dislocated joints (DI), small growth (LI), normal intelligence (NO).
A pulmonary blastoma describes a biphasic primary lung neoplasm and belongs to the group of sarcomatoid lung carcinomas.
Pseudomonas aeruginosa is a gram-negative, oxidase-positive rod-shaped bacterium of the genus Pseudomonas.
A primary effusion lymphoma is a large B-cell lymphoma localized in the body cavities. It is always associated with the human herpes virus 8 and is characterized by lymphomatous peritoneum, pleural and pericardial effusion.
Primary immunodeficiencies (PIDs) are innate diseases of the immune system. There are now more than 300 clinical pictures, many of which are orphan diseases.
PBC is the late stage of chronic inflammation of the biliary tract in the liver called non-purulent destructive cholangitis.
The term squamous cell carcinoma in the ENT area is referring to carcinomas in the ear, nose, and throat. These include various types of cancer that occur in the head and neck area.
Phenylketonuria (PKU) is one of the most common congenital metabolic diseases.
Pfeiffer syndrome (ACS5) is characterized by craniosynostosis, malformed thumbs and toes, and partial syndactyly of the fingers and toes.
The acronym PFAPA syndrome stands for periodic fever, aphthous stomatitis, pharyngitis and cervical lymphadenitis.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired hematopoietic stem cell disorder characterized clinically by occasional, hemoglobinuria producing a classically dark urine usually occurring in the night or morning.
The peroxisomal acyl-CoA oxidase deficiency describes a hereditary neurodegenerative disease. Characteristic features of the syndrome are seizures in the neonatal phase, hypotonia and neurological regression in infancy.
Pancreatic carcinoma can originate from both the endocrine and exocrine parts of the pancreas.
Pachyonychia congenita is an autosomal dominant congenital hereditary disease whose leading symptoms are onychauxis, as well as painful keratomas on the palm.
Pachydermoperiostosis describes a form of primary hypertrophic osteoarthropathy and is characterized by pachydermia, drumstick fingers, and subperiosteal new bone formation.
Otospondylomegaepiphyseal dysplasia (OSMED) is a rare genetic disease characterized by abnormal bone growth.
Osteosarcomas are primarily malignant bone tumors that predominantly occur in the tubular bones.