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hepatic porphyria

Go to external page http://purl.obolibrary.org/obo/MONDO_0002520

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. [ MESH:D017094 ]

Synonyms: hepatic porphyria liver porphyria Delta-aminolevulinate dehydratase deficiency porphobilinogen synthase deficiency porphyria of liver ALAD deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D017094 (MONDO:equivalentTo)
  • GARD:19255 (Orphanet:95157)
  • DOID:3133 (MONDO:equivalentTo)
  • Orphanet:95157 (MONDO:equivalentTo)
  • UMLS:C0162533 (MONDO:equivalentTo)
  • SCTID:55056006 (MONDO:equivalentTo)
  • GTR:AN0932921
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

exactMatch

http://identifiers.org/snomedct/55056006

http://purl.obolibrary.org/obo/DOID_3133

http://linkedlifedata.com/resource/umls/id/C0162533

http://identifiers.org/mesh/D017094

http://www.orpha.net/ORDO/Orphanet_95157

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0024255

http://purl.obolibrary.org/obo/MONDO_0019142

http://purl.obolibrary.org/obo/MONDO_0016133

has narrow synonym

acute hepatic porphyria

has related synonym

porphyria, hepatic

acute porphyria

hepatic Porphyrias

id

MONDO:0002520

Term relations

Subclass of: