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.
Osteogenesis imperfecta is a hereditary connective tissue disease characterized by incomplete bone formation with increased brittleness.
Orofaciodigital syndrome type 4 (OFD4) is characterized by tongue hamartoma, postaxial polysyndactyly, mesomelic shortening of the legs and pes equinovarus.
Orofaciodigital syndrome type 3 (OFD3) is a very rare autosomal recessive disease characterized by oral, ophthalmological, finger malformation and severe intellectual deficit.
Orofaciodigital syndrome type 2 (OFD2) is a very rare autosomal recessive inherited dysmorphic syndrome characterized by a combination of deformities of the hand and foot, facial anomalies, upper cleft lip and hamartomas of the tongue.
Orofaciodigital syndrome type 1 (OFD1) is a rare neuronal developmental disorder of the ciliary pathology group.
Onychauxis is a thickening of the nail of the fingers or toes without deformity.
The oculocerebral hypopigmentation syndrome type Cross is a rare congenital syndrome characterized by poor skin and eye pigmentation, various ocular abnormalities, dwarfism and mental retardation, and progressive neurological deficits.
Odonto chondrodysplasia is a very rare congenital skeletal dysplasia.