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  • The following terms were not found in MedGen: 49op, @JYP24, sumequals.
1.

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]

MedGen UID:
154353
Concept ID:
C0566888
Finding
2.

Proximal radio-ulnar synostosis

An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. [from HPO]

MedGen UID:
436690
Concept ID:
C2676443
Finding
3.

Radioulnar synostosis

An abnormal osseous union (fusion) between the radius and the ulna. [from HPO]

MedGen UID:
57861
Concept ID:
C0158761
Congenital Abnormality
4.

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]

MedGen UID:
776494
Concept ID:
CN184128
Sign or Symptom
5.

Ribavirin 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]

MedGen UID:
776495
Concept ID:
CN184129
Sign or Symptom
6.

Peginterferon alfa-2b 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]

MedGen UID:
450472
Concept ID:
CN078000
Sign or Symptom
7.

Boceprevir 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]

MedGen UID:
450432
Concept ID:
CN077960
Sign or Symptom
8.

Humeroradial synostosis

An abnormal osseous union (fusion) between the radius and the humerus. [from HPO]

MedGen UID:
418931
Concept ID:
C2930865
Disease or Syndrome
9.

Vertebral fusion

A developmental defect leading to the union of two adjacent vertebrae. [from HPO]

MedGen UID:
480139
Concept ID:
C3278509
Anatomical Abnormality
10.

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]

MedGen UID:
450486
Concept ID:
CN078014
Sign or Symptom
11.

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]

MedGen UID:
488128
Concept ID:
C3494175
Congenital Abnormality
12.

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]

MedGen UID:
11689
Concept ID:
C0039093
Congenital Abnormality
13.

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]

MedGen UID:
451028
Concept ID:
C0266677
Congenital Abnormality
14.

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]

MedGen UID:
867041
Concept ID:
C4021399
Anatomical Abnormality
15.

Humeroulnar synostosis

An abnormal osseous union (fusion) between the ulna and the humerus. [from HPO]

MedGen UID:
451053
Concept ID:
C0431799
Congenital Abnormality
16.

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]

MedGen UID:
1680202
Concept ID:
C5190522
Congenital Abnormality
17.

Synostosis involving bones of the lower limbs

An abnormal union between bones or parts of bones lower limbs. [from HPO]

MedGen UID:
870145
Concept ID:
C4024577
Anatomical Abnormality
18.

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]

MedGen UID:
4808
Concept ID:
C0016873
Congenital Abnormality
19.

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]

MedGen UID:
120461
Concept ID:
C0262401
Neoplastic Process
20.

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]

MedGen UID:
866598
Concept ID:
C4020944
Anatomical Abnormality
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