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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 |
|---|---|---|---|---|
| Pyruvate Metabolism, Inborn Errors Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, glucon… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160102 |
| Retrognathia A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the f… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050178 |
| Rickets, Hypophosphatemic A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defect… | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050079 |
| Ring Chromosomes Aberrant chromosomes with no ends, i.e., circular. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230069 |
| Rothmund-Thomson Syndrome An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiecta… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160051 |
| Rubinstein-Taybi Syndrome A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower li… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050024 |
| Sarcoglycanopathies Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a … | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050268 |
| Severe Combined Immunodeficiency Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody lev… | Immune Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160141 |
| Sex Chromosome Aberrations Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME … | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230070 |
| Sex Chromosome Disorders Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160030 |
| Sex Chromosome Disorders of Sex Development Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120079 |
| Sexual Infantilism The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120076 |
| Short Rib-Polydactyly Syndrome A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050060 |
| Silver-Russell Syndrome Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050324 |
| Situs Inversus A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transpos… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160033 |
| Sjogren-Larsson Syndrome An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. … | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160049 |
| Skin Diseases, Genetic Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160142 |
| Slipped Capital Femoral Epiphyses A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH P… | Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050061 |
| Smith-Lemli-Opitz Syndrome An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160020 |
| Sotos Syndrome Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive developm… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160021 |
| Steatocystoma Multiplex A disorder characterized by multiple, wide spread cutaneous cysts that often become inflamed and rupture. It is caused by the same mutations in the g… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160036 |
| Steroid Metabolism, Inborn Errors Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160136 |
| Syndactyly A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomple… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050029 |
| Synostosis A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorlan… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050025 |
| Talipes Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050153 |
| Talipes Cavus A foot deformity in which the arch of the foot is high and often the heel adducted. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050157 |
| Tarsal Coalition Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050032 |
| Tetraploidy The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230067 |
| Tetrasomy The possession of four chromosomes of any one type in an otherwise diploid cell. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230054 |
| Thanatophoric Dysplasia A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050008 |