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- NCIT_C84710 IAO_0000115 "A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability." @default.
- NCIT_C84710 NCIT_NHC0 "C84710" @default.
- NCIT_C84710 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84710 NCIT_P108 "Farber Lipogranulomatosis" @default.
- NCIT_C84710 NCIT_P207 "C0268255" @default.
- NCIT_C84710 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84710 NCIT_R176 NCIT_C103899 @default.
- NCIT_C84710 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84710 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84710 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84710 normalizedInformationContent "100" @default.
- NCIT_C84710 referenceCount "1" @default.
- NCIT_C84710 hasExactSynonym "Farber Lipogranulomatosis" @default.
- NCIT_C84710 inSubset NCIT_C165258 @default.
- NCIT_C84710 inSubset NCIT_C192842 @default.
- NCIT_C84710 type Class @default.
- NCIT_C84710 isDefinedBy ncit.owl @default.
- NCIT_C84710 label "Farber Lipogranulomatosis" @default.
- NCIT_C84710 subClassOf B1bae9dc65475f1c11fc91ac918bd1879 @default.
- NCIT_C84710 subClassOf B917f5d0a881d6d6cb33d1550f8485e26 @default.
- NCIT_C84710 subClassOf NCIT_C2991 @default.
- NCIT_C84710 subClassOf NCIT_C3235 @default.
- NCIT_C84710 subClassOf NCIT_C34816 @default.
- NCIT_C84710 subClassOf NCIT_C4873 @default.
- NCIT_C84710 subClassOf NCIT_C53529 @default.
- NCIT_C84710 subClassOf NCIT_C53543 @default.
- NCIT_C84710 subClassOf NCIT_C53547 @default.
- NCIT_C84710 subClassOf NCIT_C7057 @default.
- NCIT_C84710 subClassOf NCIT_C84710 @default.
- NCIT_C84710 subClassOf NCIT_C97092 @default.