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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:3133 (MONDO:equivalentTo)
  • GTR:AN0932921 (UMLS:CN552491)
  • UMLS:CN552491 (MONDO:equivalentTo)
  • UMLS:C0162533 (MONDO:equivalentTo)
  • MESH:D017094 (MONDO:equivalentTo)
  • ICD10:E80.2 (Orphanet:95157)
  • SCTID:55056006 (MONDO:equivalentTo)
  • Orphanet:95157 (MONDO:equivalentTo)
Subsets

ordo_group_of_disorders

closeMatch

http://linkedlifedata.com/resource/umls/id/C0268328

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/location.yaml

definition

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.

exactMatch

http://identifiers.org/snomedct/55056006

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

http://linkedlifedata.com/resource/umls/id/CN552491

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 exact synonym

hepatic porphyria

liver porphyria

Delta-aminolevulinate dehydratase deficiency

porphobilinogen synthase deficiency

porphyria of liver

ALAD deficiency

has narrow synonym

acute hepatic porphyria

has related synonym

porphyria, hepatic

acute porphyria

hepatic Porphyrias

id

MONDO:0002520

Term relations

Equivalent to:

Subclass of: