loading...| Preferred Name |
Down Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2993 |
| ALT_DEFINITION |
A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features. A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism. |
| code |
C2993 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158035 |
| Contributing_Source |
CPTAC NICHD GDC Cellosaurus PCDC |
| DEFINITION |
A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. |
| FULL_SYN |
Trisomy 21 Down's Syndrome Down syndrome Down Syndrome Trisomy 21 Syndrome Trisomy 21 (Down Syndrome) |
| Is_Value_For_GDC_Property | |
| label |
Down Syndrome |
| Legacy Concept Name |
Down_Syndrome |
| Maps_To |
Down Syndrome |
| Preferred_Name |
Down Syndrome |
| prefixIRI |
Thesaurus:C2993 |
| prefLabel |
Down Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0013080 |
| subClassOf |