Public registry
Nodes
Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Any direct membership
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| Glycogen Storage Disease Type VIII An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160060 |
| Goldenhar Syndrome Mandibulofacial dysostosis with congenital eyelid dermoids. | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050020 |
| Gonadal Dysgenesis A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120074 |
| Gonadal Dysgenesis, 46,XX The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120065 |
| Gonadal Dysgenesis, 46,XY Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subse… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120072 |
| Gonadal Dysgenesis, Mixed A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromoso… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120075 |
| Hajdu-Cheney Syndrome Rare, autosomal dominant syndrome characterized by ACRO-OSTEOLYSIS, generalized OSTEOPOROSIS, and skull deformations. | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050005 |
| Hand Deformities, Congenital Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050170 |
| Hemimegalencephaly Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partia… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050316 |
| Hemochromatosis A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposit… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160130 |
| Hereditary Autoinflammatory Diseases Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arth… | Inflammatory Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160063 |
| Hereditary Complement Deficiency Diseases Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement act… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160139 |
| Hernias, Diaphragmatic, Congenital Protrusion of abdominal structures into the THORAX as a result of embryologic defects in the DIAPHRAGM often present in the neonatal period. It can b… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160031 |
| Hip Dislocation, Congenital Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral h… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050325 |
| Holocarboxylase Synthetase Deficiency The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160078 |
| Holoprosencephaly Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and clea… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050312 |
| Homozygous Familial Hypercholesterolemia A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if no… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160112 |
| Hyaline Fibromatosis Syndrome Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160147 |
| Hyperandrogenism A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120066 |
| Hyperbilirubinemia, Hereditary Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin pro… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160104 |
| Hyperhomocysteinemia Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l). Hyperhomocysteinemia can be familial or acq… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160074 |
| Hyperkeratosis, Epidermolytic A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifeste… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160044 |
| Hyperlipidemia, Familial Combined A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160109 |
| Hyperlipoproteinemia Type I An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase acti… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160110 |
| Hyperlipoproteinemia Type II A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LO… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160111 |
| Hyperlipoproteinemia Type III An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). ID… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160113 |
| Hyperlipoproteinemia Type IV A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES,… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160114 |
| Hyperlipoproteinemia Type V A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained i… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160115 |
| Hyperostosis Frontalis Interna Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menop… | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050051 |
| Hyperostosis, Cortical, Congenital A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remissio… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050050 |