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- B3bc0b31ce4d85e52d94e924d7f739a36 NCIT_P378 "NCI" @default.
- B3bc0b31ce4d85e52d94e924d7f739a36 type Axiom @default.
- B3bc0b31ce4d85e52d94e924d7f739a36 annotatedProperty IAO_0000115 @default.
- B3bc0b31ce4d85e52d94e924d7f739a36 annotatedSource NCIT_C84536 @default.
- B3bc0b31ce4d85e52d94e924d7f739a36 annotatedTarget "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.