Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C84890> ?p ?o ?g. }
Showing items 1 to 40 of
40
with 100 items per page.
- NCIT_C84890 IAO_0000115 "A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy." @default.
- NCIT_C84890 NCIT_NHC0 "C84890" @default.
- NCIT_C84890 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84890 NCIT_P108 "Mevalonate Kinase Deficiency" @default.
- NCIT_C84890 NCIT_P207 "C1959626" @default.
- NCIT_C84890 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84890 NCIT_P322 "NICHD" @default.
- NCIT_C84890 NCIT_P325 "An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK." @default.
- NCIT_C84890 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84890 NCIT_R176 NCIT_C176451 @default.
- NCIT_C84890 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84890 NCIT_R176 NCIT_C25870 @default.
- NCIT_C84890 NCIT_R176 NCIT_C25871 @default.
- NCIT_C84890 NCIT_R176 NCIT_C25872 @default.
- NCIT_C84890 normalizedInformationContent "100" @default.
- NCIT_C84890 referenceCount "1" @default.
- NCIT_C84890 hasExactSynonym "HIDS" @default.
- NCIT_C84890 hasExactSynonym "Hyperimmunoglobulin D with Periodic Fever Syndrome" @default.
- NCIT_C84890 hasExactSynonym "MKD" @default.
- NCIT_C84890 hasExactSynonym "Mevalonate Kinase Deficiency" @default.
- NCIT_C84890 hasExactSynonym "Mevalonic Aciduria" @default.
- NCIT_C84890 inSubset NCIT_C118468 @default.
- NCIT_C84890 inSubset NCIT_C165258 @default.
- NCIT_C84890 inSubset NCIT_C192842 @default.
- NCIT_C84890 inSubset NCIT_C90259 @default.
- NCIT_C84890 type Class @default.
- NCIT_C84890 isDefinedBy ncit.owl @default.
- NCIT_C84890 label "Mevalonate Kinase Deficiency" @default.
- NCIT_C84890 subClassOf B4fa021a00509669f2310b48183d3934f @default.
- NCIT_C84890 subClassOf B7757e47c6dc3dbb8e71253975c450ca4 @default.
- NCIT_C84890 subClassOf NCIT_C2991 @default.
- NCIT_C84890 subClassOf NCIT_C3235 @default.
- NCIT_C84890 subClassOf NCIT_C34816 @default.
- NCIT_C84890 subClassOf NCIT_C4873 @default.
- NCIT_C84890 subClassOf NCIT_C53529 @default.
- NCIT_C84890 subClassOf NCIT_C53543 @default.
- NCIT_C84890 subClassOf NCIT_C53547 @default.
- NCIT_C84890 subClassOf NCIT_C7057 @default.
- NCIT_C84890 subClassOf NCIT_C84890 @default.
- NCIT_C84890 subClassOf NCIT_C97092 @default.