Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C2989> ?p ?o ?g. }
Showing items 1 to 56 of
56
with 100 items per page.
- NCIT_C2989 IAO_0000115 "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly." @default.
- NCIT_C2989 NCIT_NHC0 "C2989" @default.
- NCIT_C2989 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C2989 NCIT_P108 "22q11.2 Deletion Syndrome" @default.
- NCIT_C2989 NCIT_P207 "C0012236" @default.
- NCIT_C2989 NCIT_P322 "ACC/AHA" @default.
- NCIT_C2989 NCIT_P322 "Cellosaurus" @default.
- NCIT_C2989 NCIT_P322 "NICHD" @default.
- NCIT_C2989 NCIT_P325 "A congenital anomaly characterized by partial deletion of the long arm of chromosome 22." @default.
- NCIT_C2989 NCIT_P325 "A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism." @default.
- NCIT_C2989 NCIT_P366 "DiGeorge_s_Syndrome" @default.
- NCIT_C2989 NCIT_R174 NCIT_C12219 @default.
- NCIT_C2989 NCIT_R174 NCIT_C13202 @default.
- NCIT_C2989 NCIT_R174 NCIT_C13203 @default.
- NCIT_C2989 NCIT_R174 NCIT_C13218 @default.
- NCIT_C2989 NCIT_R174 NCIT_C13404 @default.
- NCIT_C2989 NCIT_R174 NCIT_C14134 @default.
- NCIT_C2989 NCIT_R174 NCIT_C21599 @default.
- NCIT_C2989 normalizedInformationContent "88.143637090998837" @default.
- NCIT_C2989 referenceCount "6" @default.
- NCIT_C2989 hasExactSynonym "22q Deletion Syndrome(s)" @default.
- NCIT_C2989 hasExactSynonym "22q11 deletion" @default.
- NCIT_C2989 hasExactSynonym "22q11.2 Deletion Syndrome" @default.
- NCIT_C2989 hasExactSynonym "CATCH-22" @default.
- NCIT_C2989 hasExactSynonym "DGS1" @default.
- NCIT_C2989 hasExactSynonym "DiGeorge Anomaly" @default.
- NCIT_C2989 hasExactSynonym "DiGeorge Sequence" @default.
- NCIT_C2989 hasExactSynonym "DiGeorge Syndrome Type 1" @default.
- NCIT_C2989 hasExactSynonym "DiGeorge Syndrome" @default.
- NCIT_C2989 hasExactSynonym "DiGeorge syndrome" @default.
- NCIT_C2989 hasExactSynonym "DiGeorge's Syndrome" @default.
- NCIT_C2989 hasExactSynonym "FACES" @default.
- NCIT_C2989 hasExactSynonym "Shprintzen Syndrome" @default.
- NCIT_C2989 hasExactSynonym "Shprintzen syndrome" @default.
- NCIT_C2989 inSubset NCIT_C118467 @default.
- NCIT_C2989 inSubset NCIT_C165258 @default.
- NCIT_C2989 inSubset NCIT_C167409 @default.
- NCIT_C2989 inSubset NCIT_C192842 @default.
- NCIT_C2989 inSubset NCIT_C90259 @default.
- NCIT_C2989 inSubset NCIT_C99147 @default.
- NCIT_C2989 type Class @default.
- NCIT_C2989 isDefinedBy ncit.owl @default.
- NCIT_C2989 label "22q11.2 Deletion Syndrome" @default.
- NCIT_C2989 subClassOf B4cbbd10b9b6f5222cf1e73d3cd24bf02 @default.
- NCIT_C2989 subClassOf B96be8f6a40713dd31ad38bb23cb99913 @default.
- NCIT_C2989 subClassOf NCIT_C27145 @default.
- NCIT_C2989 subClassOf NCIT_C27351 @default.
- NCIT_C2989 subClassOf NCIT_C27551 @default.
- NCIT_C2989 subClassOf NCIT_C27872 @default.
- NCIT_C2989 subClassOf NCIT_C28193 @default.
- NCIT_C2989 subClassOf NCIT_C2989 @default.
- NCIT_C2989 subClassOf NCIT_C2991 @default.
- NCIT_C2989 subClassOf NCIT_C3101 @default.
- NCIT_C2989 subClassOf NCIT_C3131 @default.
- NCIT_C2989 subClassOf NCIT_C3507 @default.
- NCIT_C2989 subClassOf NCIT_C7057 @default.