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Proximal radio-ulnar synostosis
An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. [from HPO]
Narrow greater sciatic notch
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [from HPO]
Radioulnar synostosis
An abnormal osseous union (fusion) between the radius and the ulna. [from HPO]
Peginterferon alfa-2a response
PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection. IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro. Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV. In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy. IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy. Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website. [from PharmGKB]
Ribavirin response
Peginterferon alfa-2b response
Boceprevir response
Humeroradial synostosis
An abnormal osseous union (fusion) between the radius and the humerus. [from HPO]
Vertebral fusion
A developmental defect leading to the union of two adjacent vertebrae. [from HPO]
Telaprevir response
PEG-interferon alpha (PEG-IFN 2a and 2b, or PEG-IFN alpha), in combination with ribavirin, is used to treat Hepatitis C Virus (HCV) infection. IFNL3 (also known as IL28B) is a member of the type 3 IFN-alpha family, which are induced by viruses and inhibit HCV replication in vitro. Genetic variants in IFNL3 are associated with increased response (higher sustained virological response rate) to PEG-interferon alpha/ribavirin combination therapy and clearance of HCV. In 2011, the protease inhibitors boceprevir and telaprevir were approved to treat HCV genotype 1 infection in many countries, including the United States and those in the European Union, and are now included in HCV combination therapy. IFNL3 genotype predicts response to this combination therapy and also predicts eligibility for shorter duration of therapy. Guidelines regarding the clinical use of PEG-interferon alpha containing regimens based on IFNL3 genotype have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC) and are available on the PharmGKB website. [from Clinical Pharmacogenetics Implementation Consortium]
Synostosis
A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. [from MONDO]
Synotia
A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. [from HPO]
Fused mandibular incisors
Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia (see this term) and an increased risk of pulp exposure. [from ORDO]
Finger symphalangism
An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. [from HPO]
Humeroulnar synostosis
An abnormal osseous union (fusion) between the ulna and the humerus. [from HPO]
Abnormal greater sciatic notch morphology
An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. [from HPO]
Teeth, fused
The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. [from HPO]
Ampulla of Vater carcinoma
A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. [from HPO]
Abnormal ductus choledochus morphology
An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. [from HPO]
Congenital pseudoarthrosis of the limbs
A rare genetic non-syndromic limb malformation with characteristics of delayed union or non-union of a long bone, resulting in formation of a false joint, with abnormal mobility and angulation at the pseudoarthrosis site, which manifests with progressive anterolateral forearm or leg bowing, limb shortening, and non-healing fractures. Typical histopathological findings include fibromatosis-like proliferation in the soft tissues with cystic or dysplastic lesions. Neurofibromatosis and osteofibrous dysplasia are frequently associated. [from SNOMEDCT_US]
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