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- NCIT_C130992 IAO_0000115 "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." @default.
- NCIT_C130992 NCIT_NHC0 "C130992" @default.
- NCIT_C130992 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C130992 NCIT_P108 "Kenny-Caffey Syndrome Type 1" @default.
- NCIT_C130992 NCIT_P207 "C1855648" @default.
- NCIT_C130992 NCIT_P322 "NICHD" @default.
- NCIT_C130992 NCIT_P325 "An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet." @default.
- NCIT_C130992 NCIT_R176 NCIT_C16612 @default.
- NCIT_C130992 NCIT_R176 NCIT_C190660 @default.
- NCIT_C130992 NCIT_R176 NCIT_C25802 @default.
- NCIT_C130992 normalizedInformationContent "100" @default.
- NCIT_C130992 referenceCount "1" @default.
- NCIT_C130992 hasExactSynonym "Kenny-Caffey Syndrome Type 1" @default.
- NCIT_C130992 inSubset NCIT_C118467 @default.
- NCIT_C130992 inSubset NCIT_C90259 @default.
- NCIT_C130992 type Class @default.
- NCIT_C130992 isDefinedBy ncit.owl @default.
- NCIT_C130992 label "Kenny-Caffey Syndrome Type 1" @default.
- NCIT_C130992 subClassOf B0ec719d32a7d711b3b00161997a47989 @default.
- NCIT_C130992 subClassOf B702ed61057513e945a884a75b6d1da39 @default.
- NCIT_C130992 subClassOf NCIT_C130991 @default.
- NCIT_C130992 subClassOf NCIT_C130992 @default.
- NCIT_C130992 subClassOf NCIT_C28193 @default.
- NCIT_C130992 subClassOf NCIT_C2991 @default.
- NCIT_C130992 subClassOf NCIT_C7057 @default.