Public registry
Nodes
Browse canonical concepts by label, domain, node type, prefix and encoded class.
Current membership scope: Domain and all descendants
| Concept | Node type | Base domain | Matched membership | Identifier |
|---|---|---|---|---|
| Thyroid Dysgenesis Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually… | Metabolic Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160053 |
| Tracheomalacia A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA. This results in a floppy tracheal wall making paten… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050143 |
| Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230071 |
| Trichothiodystrophy Syndromes Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility,… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160022 |
| Triploidy Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, M… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230068 |
| Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230055 |
| Turner Syndrome A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stat… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:120077 |
| Twins, Conjoined MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sa… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160027 |
| Uniparental Disomy The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composi… | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230065 |
| Upper Extremity Deformities, Congenital Congenital structural abnormalities of the UPPER EXTREMITY. | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050333 |
| Waardenburg Syndrome Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair an… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160023 |
| Weill-Marchesani Syndrome Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microsp… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050014 |
| Werner Syndrome An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcificat… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160156 |
| Wolf-Hirschhorn Syndrome A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs).… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160024 |
| Wolman Disease The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by th… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160123 |
| X-Linked Combined Immunodeficiency Diseases Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes… | Immune Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160061 |
| X-Linked Emery-Dreifuss Muscular Dystrophy Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chrom… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:050272 |
| Xanthomatosis, Cerebrotendinous An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by… | Congenital Disorder | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160125 |
| XYY Karyotype Abnormal genetic constitution in males characterized by an extra Y chromosome. | Pathologic Condition | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:230050 |
| Yellow Nail Syndrome A rare condition characterized by the presence of yellow nails, LYMPHEDEMA, and/or PLEURAL EFFUSION with respiratory tract involvement. Abnormal lymp… | Syndrome | Pathology | Clinical Genetics [curated_secondary] | AMW:DIS:160157 |