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- NCIT_C119676 IAO_0000115 "A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills." @default.
- NCIT_C119676 NCIT_NHC0 "C119676" @default.
- NCIT_C119676 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C119676 NCIT_P107 "D-Bifunctional Protein Deficiency" @default.
- NCIT_C119676 NCIT_P108 "D-Bifunctional Protein Deficiency" @default.
- NCIT_C119676 NCIT_P207 "C0342870" @default.
- NCIT_C119676 NCIT_P322 "CTRP" @default.
- NCIT_C119676 NCIT_P322 "Cellosaurus" @default.
- NCIT_C119676 NCIT_R176 NCIT_C114364 @default.
- NCIT_C119676 NCIT_R176 NCIT_C16612 @default.
- NCIT_C119676 NCIT_R176 NCIT_C21281 @default.
- NCIT_C119676 NCIT_R176 NCIT_C21282 @default.
- NCIT_C119676 NCIT_R176 NCIT_C25939 @default.
- NCIT_C119676 normalizedInformationContent "100" @default.
- NCIT_C119676 referenceCount "1" @default.
- NCIT_C119676 hasExactSynonym "D-Bifunctional Enzyme Deficiency" @default.
- NCIT_C119676 hasExactSynonym "D-Bifunctional Protein Deficiency" @default.
- NCIT_C119676 hasExactSynonym "Multifunctional Enzyme Deficiency" @default.
- NCIT_C119676 hasExactSynonym "Peroxisomal Multifunctional Enzyme (MFE2) Deficiency" @default.
- NCIT_C119676 hasExactSynonym "Peroxisomal Multifunctional Enzyme Deficiency" @default.
- NCIT_C119676 hasExactSynonym "Pseudo-Zellweger Syndrome" @default.
- NCIT_C119676 inSubset NCIT_C116977 @default.
- NCIT_C119676 inSubset NCIT_C118168 @default.
- NCIT_C119676 inSubset NCIT_C165258 @default.
- NCIT_C119676 inSubset NCIT_C192842 @default.
- NCIT_C119676 type Class @default.
- NCIT_C119676 isDefinedBy ncit.owl @default.
- NCIT_C119676 label "D-Bifunctional Protein Deficiency" @default.
- NCIT_C119676 subClassOf B01b852742ee7f2ade316e125ca1c1885 @default.
- NCIT_C119676 subClassOf B2c94fb8a7510706d4cbb9ee4de786ac2 @default.
- NCIT_C119676 subClassOf NCIT_C119676 @default.
- NCIT_C119676 subClassOf NCIT_C2991 @default.
- NCIT_C119676 subClassOf NCIT_C4873 @default.
- NCIT_C119676 subClassOf NCIT_C53529 @default.
- NCIT_C119676 subClassOf NCIT_C53543 @default.
- NCIT_C119676 subClassOf NCIT_C53547 @default.
- NCIT_C119676 subClassOf NCIT_C7057 @default.