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- NCIT_C173571 IAO_0000115 "An X-linked recessive inherited disorder caused by loss of function mutations in the PIGA gene. It is characterized by deficient GPI-anchor synthesis. Patients may develop somatic paroxysmal nocturnal hemoglobinuria (PNH) or multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2; early infantile epileptic encephalopathy 20; EIEE20)." @default.
- NCIT_C173571 NCIT_NHC0 "C173571" @default.
- NCIT_C173571 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C173571 NCIT_P108 "PIGA Deficiency" @default.
- NCIT_C173571 NCIT_P208 "CL1407302" @default.
- NCIT_C173571 NCIT_R176 NCIT_C16612 @default.
- NCIT_C173571 NCIT_R176 NCIT_C21281 @default.
- NCIT_C173571 NCIT_R176 NCIT_C25870 @default.
- NCIT_C173571 NCIT_R176 NCIT_C26147 @default.
- NCIT_C173571 NCIT_R176 NCIT_C95924 @default.
- NCIT_C173571 normalizedInformationContent "100" @default.
- NCIT_C173571 referenceCount "1" @default.
- NCIT_C173571 hasExactSynonym "PIGA Deficiency" @default.
- NCIT_C173571 hasExactSynonym "PIGA GPI Anchor Protein Defect" @default.
- NCIT_C173571 hasExactSynonym "PIGA GPI Anchor Protein Deficiency" @default.
- NCIT_C173571 hasExactSynonym "Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A Deficiency" @default.
- NCIT_C173571 type Class @default.
- NCIT_C173571 isDefinedBy ncit.owl @default.
- NCIT_C173571 label "PIGA Deficiency" @default.
- NCIT_C173571 subClassOf Bdca4ce6723b741772494b17094fcb815 @default.
- NCIT_C173571 subClassOf Be55cad4429527731e196b37bfcb14d0a @default.
- NCIT_C173571 subClassOf NCIT_C173571 @default.
- NCIT_C173571 subClassOf NCIT_C2991 @default.
- NCIT_C173571 subClassOf NCIT_C3101 @default.
- NCIT_C173571 subClassOf NCIT_C3235 @default.
- NCIT_C173571 subClassOf NCIT_C34816 @default.
- NCIT_C173571 subClassOf NCIT_C53529 @default.
- NCIT_C173571 subClassOf NCIT_C53547 @default.
- NCIT_C173571 subClassOf NCIT_C7057 @default.
- NCIT_C173571 subClassOf NCIT_C85865 @default.