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- NCIT_C101222 IAO_0000115 "A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease." @default.
- NCIT_C101222 NCIT_NHC0 "C101222" @default.
- NCIT_C101222 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C101222 NCIT_P108 "Complete Trisomy 21 Syndrome" @default.
- NCIT_C101222 NCIT_P208 "CL435606" @default.
- NCIT_C101222 NCIT_P322 "NICHD" @default.
- NCIT_C101222 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_C101222 NCIT_R106 NCIT_C2873 @default.
- NCIT_C101222 NCIT_R106 NCIT_C2950 @default.
- NCIT_C101222 NCIT_R106 NCIT_C3421 @default.
- NCIT_C101222 NCIT_R106 NCIT_C36331 @default.
- NCIT_C101222 NCIT_R106 NCIT_C3910 @default.
- NCIT_C101222 NCIT_R106 NCIT_C43224 @default.
- NCIT_C101222 NCIT_R106 NCIT_C6825 @default.
- NCIT_C101222 NCIT_R174 NCIT_C12219 @default.
- NCIT_C101222 NCIT_R174 NCIT_C13202 @default.
- NCIT_C101222 NCIT_R174 NCIT_C13203 @default.
- NCIT_C101222 NCIT_R174 NCIT_C13217 @default.
- NCIT_C101222 NCIT_R174 NCIT_C13404 @default.
- NCIT_C101222 NCIT_R174 NCIT_C14134 @default.
- NCIT_C101222 NCIT_R174 NCIT_C21599 @default.
- NCIT_C101222 normalizedInformationContent "100" @default.
- NCIT_C101222 referenceCount "1" @default.
- NCIT_C101222 hasExactSynonym "Complete Trisomy 21 Syndrome" @default.
- NCIT_C101222 hasExactSynonym "Down Syndrome" @default.
- NCIT_C101222 inSubset NCIT_C118467 @default.
- NCIT_C101222 inSubset NCIT_C90259 @default.
- NCIT_C101222 inSubset NCIT_C99147 @default.
- NCIT_C101222 type Class @default.
- NCIT_C101222 isDefinedBy ncit.owl @default.
- NCIT_C101222 label "Complete Trisomy 21 Syndrome" @default.
- NCIT_C101222 subClassOf B293c66f699badde669223980d47e0af6 @default.
- NCIT_C101222 subClassOf B3280b3a8ed74f17ea2d7be25dbf085ff @default.
- NCIT_C101222 subClassOf NCIT_C101222 @default.
- NCIT_C101222 subClassOf NCIT_C28193 @default.
- NCIT_C101222 subClassOf NCIT_C2991 @default.
- NCIT_C101222 subClassOf NCIT_C2993 @default.
- NCIT_C101222 subClassOf NCIT_C3101 @default.
- NCIT_C101222 subClassOf NCIT_C7057 @default.