Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb5b6570bcabf40003c8e287058d7585c> ?p ?o ?g. }
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- Bb5b6570bcabf40003c8e287058d7585c hasDbXref "MESH:D017094" @default.
- Bb5b6570bcabf40003c8e287058d7585c type Axiom @default.
- Bb5b6570bcabf40003c8e287058d7585c annotatedProperty IAO_0000115 @default.
- Bb5b6570bcabf40003c8e287058d7585c annotatedSource MONDO_0002520 @default.
- Bb5b6570bcabf40003c8e287058d7585c annotatedTarget "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." @default.