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- NCIT_C133727 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay." @default.
- NCIT_C133727 NCIT_NHC0 "C133727" @default.
- NCIT_C133727 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C133727 NCIT_P108 "Hypoparathyroidism-Retardation-Dysmorphism Syndrome" @default.
- NCIT_C133727 NCIT_P207 "C1855840" @default.
- NCIT_C133727 NCIT_P322 "Cellosaurus" @default.
- NCIT_C133727 NCIT_R176 NCIT_C16612 @default.
- NCIT_C133727 NCIT_R176 NCIT_C190660 @default.
- NCIT_C133727 NCIT_R176 NCIT_C25802 @default.
- NCIT_C133727 normalizedInformationContent "100" @default.
- NCIT_C133727 referenceCount "1" @default.
- NCIT_C133727 hasExactSynonym "HRDS" @default.
- NCIT_C133727 hasExactSynonym "Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures" @default.
- NCIT_C133727 hasExactSynonym "Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay" @default.
- NCIT_C133727 hasExactSynonym "Hypoparathyroidism-Retardation-Dysmorphism Syndrome" @default.
- NCIT_C133727 hasExactSynonym "Sanjad-Sakati Syndrome" @default.
- NCIT_C133727 inSubset NCIT_C165258 @default.
- NCIT_C133727 inSubset NCIT_C192842 @default.
- NCIT_C133727 type Class @default.
- NCIT_C133727 isDefinedBy ncit.owl @default.
- NCIT_C133727 label "Hypoparathyroidism-Retardation-Dysmorphism Syndrome" @default.
- NCIT_C133727 subClassOf B2f79cfd34985fbda47b88f9d3c6205e8 @default.
- NCIT_C133727 subClassOf B34087cb76c457dfacea1f55855161839 @default.
- NCIT_C133727 subClassOf NCIT_C133727 @default.
- NCIT_C133727 subClassOf NCIT_C28193 @default.
- NCIT_C133727 subClassOf NCIT_C2991 @default.
- NCIT_C133727 subClassOf NCIT_C4873 @default.
- NCIT_C133727 subClassOf NCIT_C53529 @default.
- NCIT_C133727 subClassOf NCIT_C53543 @default.
- NCIT_C133727 subClassOf NCIT_C53547 @default.
- NCIT_C133727 subClassOf NCIT_C7057 @default.