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- NCIT_C84536 IAO_0000115 "A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain." @default.
- NCIT_C84536 NCIT_NHC0 "C84536" @default.
- NCIT_C84536 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84536 NCIT_P108 "Acute Intermittent Porphyria" @default.
- NCIT_C84536 NCIT_P207 "C0162565" @default.
- NCIT_C84536 NCIT_P322 "Cellosaurus" @default.
- NCIT_C84536 normalizedInformationContent "100" @default.
- NCIT_C84536 referenceCount "1" @default.
- NCIT_C84536 hasExactSynonym "Acute Intermittent Porphyria" @default.
- NCIT_C84536 hasExactSynonym "Porphyria, Acute Intermittent" @default.
- NCIT_C84536 inSubset NCIT_C165258 @default.
- NCIT_C84536 inSubset NCIT_C192842 @default.
- NCIT_C84536 type Class @default.
- NCIT_C84536 isDefinedBy ncit.owl @default.
- NCIT_C84536 label "Acute Intermittent Porphyria" @default.
- NCIT_C84536 subClassOf NCIT_C2991 @default.
- NCIT_C84536 subClassOf NCIT_C3235 @default.
- NCIT_C84536 subClassOf NCIT_C4873 @default.
- NCIT_C84536 subClassOf NCIT_C53529 @default.
- NCIT_C84536 subClassOf NCIT_C53543 @default.
- NCIT_C84536 subClassOf NCIT_C53547 @default.
- NCIT_C84536 subClassOf NCIT_C7057 @default.
- NCIT_C84536 subClassOf NCIT_C84536 @default.
- NCIT_C84536 subClassOf NCIT_C97096 @default.