Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C118437> ?p ?o ?g. }
Showing items 1 to 42 of
42
with 100 items per page.
- NCIT_C118437 IAO_0000115 "A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness." @default.
- NCIT_C118437 NCIT_NHC0 "C118437" @default.
- NCIT_C118437 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C118437 NCIT_P108 "Glycogen Storage Disease Type VII" @default.
- NCIT_C118437 NCIT_P207 "C0017926" @default.
- NCIT_C118437 NCIT_P322 "Cellosaurus" @default.
- NCIT_C118437 NCIT_P322 "NICHD" @default.
- NCIT_C118437 NCIT_P325 "A rare, autosomal recessive, inherited, metabolic disorder that is caused by mutation of the PFKM gene, resulting in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise; affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness." @default.
- NCIT_C118437 NCIT_R176 NCIT_C104789 @default.
- NCIT_C118437 NCIT_R176 NCIT_C16612 @default.
- NCIT_C118437 NCIT_R176 NCIT_C21281 @default.
- NCIT_C118437 NCIT_R176 NCIT_C25870 @default.
- NCIT_C118437 NCIT_R176 NCIT_C25871 @default.
- NCIT_C118437 normalizedInformationContent "100" @default.
- NCIT_C118437 referenceCount "1" @default.
- NCIT_C118437 hasExactSynonym "GSD7" @default.
- NCIT_C118437 hasExactSynonym "GSDVII" @default.
- NCIT_C118437 hasExactSynonym "Glycogen Storage Disease Type VII" @default.
- NCIT_C118437 hasExactSynonym "Glycogen Storage Disease VII" @default.
- NCIT_C118437 hasExactSynonym "Muscle Phosphofructokinase Deficiency" @default.
- NCIT_C118437 hasExactSynonym "PFKM Deficiency" @default.
- NCIT_C118437 hasExactSynonym "Phosphofructokinase Deficiency" @default.
- NCIT_C118437 hasExactSynonym "Tarui Disease" @default.
- NCIT_C118437 inSubset NCIT_C132009 @default.
- NCIT_C118437 inSubset NCIT_C165258 @default.
- NCIT_C118437 inSubset NCIT_C192842 @default.
- NCIT_C118437 inSubset NCIT_C90259 @default.
- NCIT_C118437 type Class @default.
- NCIT_C118437 isDefinedBy ncit.owl @default.
- NCIT_C118437 label "Glycogen Storage Disease Type VII" @default.
- NCIT_C118437 subClassOf B8e80c5c51675c89fce27d4da8b059828 @default.
- NCIT_C118437 subClassOf Bbf681e41e5b8b027e813392d1510430c @default.
- NCIT_C118437 subClassOf NCIT_C118437 @default.
- NCIT_C118437 subClassOf NCIT_C2991 @default.
- NCIT_C118437 subClassOf NCIT_C3235 @default.
- NCIT_C118437 subClassOf NCIT_C34816 @default.
- NCIT_C118437 subClassOf NCIT_C4873 @default.
- NCIT_C118437 subClassOf NCIT_C53529 @default.
- NCIT_C118437 subClassOf NCIT_C53543 @default.
- NCIT_C118437 subClassOf NCIT_C53547 @default.
- NCIT_C118437 subClassOf NCIT_C61272 @default.
- NCIT_C118437 subClassOf NCIT_C7057 @default.