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- NCIT_C99247 IAO_0000115 "A rare autosomal recessive inherited disorder that is manifested in the neonatal period and is caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms include difficulties in feeding and breathing, skin rash, seizures, lethargy, and coma." @default.
- NCIT_C99247 NCIT_NHC0 "C99247" @default.
- NCIT_C99247 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C99247 NCIT_P108 "Neonatal Holocarboxylase Synthetase Deficiency" @default.
- NCIT_C99247 NCIT_P208 "CL449296" @default.
- NCIT_C99247 NCIT_R176 NCIT_C16612 @default.
- NCIT_C99247 NCIT_R176 NCIT_C190512 @default.
- NCIT_C99247 NCIT_R176 NCIT_C21281 @default.
- NCIT_C99247 NCIT_R176 NCIT_C25943 @default.
- NCIT_C99247 normalizedInformationContent "100" @default.
- NCIT_C99247 referenceCount "1" @default.
- NCIT_C99247 hasExactSynonym "Neonatal Holocarboxylase Synthetase Deficiency" @default.
- NCIT_C99247 hasExactSynonym "Neonatal Multiple Carboxylase Deficiency" @default.
- NCIT_C99247 type Class @default.
- NCIT_C99247 isDefinedBy ncit.owl @default.
- NCIT_C99247 label "Neonatal Holocarboxylase Synthetase Deficiency" @default.
- NCIT_C99247 subClassOf NCIT_C2991 @default.
- NCIT_C99247 subClassOf NCIT_C3235 @default.
- NCIT_C99247 subClassOf NCIT_C34816 @default.
- NCIT_C99247 subClassOf NCIT_C4873 @default.
- NCIT_C99247 subClassOf NCIT_C53529 @default.
- NCIT_C99247 subClassOf NCIT_C53543 @default.
- NCIT_C99247 subClassOf NCIT_C53547 @default.
- NCIT_C99247 subClassOf NCIT_C7057 @default.
- NCIT_C99247 subClassOf NCIT_C89328 @default.
- NCIT_C99247 subClassOf NCIT_C98842 @default.
- NCIT_C99247 subClassOf NCIT_C98996 @default.
- NCIT_C99247 subClassOf NCIT_C99247 @default.