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- NCIT_C2993 IAO_0000115 "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." @default.
- NCIT_C2993 NCIT_A32 NCIT_C16457 @default.
- NCIT_C2993 NCIT_A32 NCIT_C17103 @default.
- NCIT_C2993 NCIT_NHC0 "C2993" @default.
- NCIT_C2993 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C2993 NCIT_P108 "Down Syndrome" @default.
- NCIT_C2993 NCIT_P207 "C0013080" @default.
- NCIT_C2993 NCIT_P322 "CPTAC" @default.
- NCIT_C2993 NCIT_P322 "Cellosaurus" @default.
- NCIT_C2993 NCIT_P322 "GDC" @default.
- NCIT_C2993 NCIT_P322 "NICHD" @default.
- NCIT_C2993 NCIT_P322 "PCDC" @default.
- NCIT_C2993 NCIT_P325 "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." @default.
- NCIT_C2993 NCIT_P325 "A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features." @default.
- NCIT_C2993 NCIT_P366 "Down_Syndrome" @default.
- NCIT_C2993 NCIT_P375 "Down Syndrome" @default.
- NCIT_C2993 NCIT_R174 NCIT_C12219 @default.
- NCIT_C2993 NCIT_R174 NCIT_C13202 @default.
- NCIT_C2993 NCIT_R174 NCIT_C13203 @default.
- NCIT_C2993 NCIT_R174 NCIT_C13217 @default.
- NCIT_C2993 NCIT_R174 NCIT_C13404 @default.
- NCIT_C2993 NCIT_R174 NCIT_C14134 @default.
- NCIT_C2993 NCIT_R174 NCIT_C21599 @default.
- NCIT_C2993 normalizedInformationContent "84.76342111748103" @default.
- NCIT_C2993 referenceCount "10" @default.
- NCIT_C2993 hasExactSynonym "Down Syndrome" @default.
- NCIT_C2993 hasExactSynonym "Down syndrome" @default.
- NCIT_C2993 hasExactSynonym "Down's Syndrome" @default.
- NCIT_C2993 hasExactSynonym "Trisomy 21 (Down Syndrome)" @default.
- NCIT_C2993 hasExactSynonym "Trisomy 21 Syndrome" @default.
- NCIT_C2993 hasExactSynonym "Trisomy 21" @default.
- NCIT_C2993 inSubset NCIT_C156952 @default.
- NCIT_C2993 inSubset NCIT_C157711 @default.
- NCIT_C2993 inSubset NCIT_C158035 @default.
- NCIT_C2993 inSubset NCIT_C158520 @default.
- NCIT_C2993 inSubset NCIT_C165258 @default.
- NCIT_C2993 inSubset NCIT_C177537 @default.
- NCIT_C2993 inSubset NCIT_C186315 @default.
- NCIT_C2993 inSubset NCIT_C186341 @default.
- NCIT_C2993 inSubset NCIT_C192842 @default.
- NCIT_C2993 inSubset NCIT_C90259 @default.
- NCIT_C2993 inSubset NCIT_C99147 @default.
- NCIT_C2993 type Class @default.
- NCIT_C2993 isDefinedBy ncit.owl @default.
- NCIT_C2993 label "Down Syndrome" @default.
- NCIT_C2993 subClassOf B88763540f495ed358a34fdbe174bfa96 @default.
- NCIT_C2993 subClassOf Bdd51ef57171aa267fa1dbaea97eacd63 @default.
- NCIT_C2993 subClassOf NCIT_C28193 @default.
- NCIT_C2993 subClassOf NCIT_C2991 @default.
- NCIT_C2993 subClassOf NCIT_C2993 @default.
- NCIT_C2993 subClassOf NCIT_C3101 @default.
- NCIT_C2993 subClassOf NCIT_C7057 @default.