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inherited porphyria

Go to external page http://purl.obolibrary.org/obo/MONDO_0019142

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. [ Orphanet:738 ]

Synonyms: hereditary porphyria disorder of porphyrin and hem metabolism

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:10353 (MONDO:GARD)
  • SCTID:371628009 (MONDO:equivalentTo)
  • NANDO:2200610 (https://orcid.org/0000-0003-0011-764X)
  • UMLS:C1275125 (MONDO:equivalentTo)
  • MEDGEN:698423 (MONDO:equivalentTo)
  • DOID:13268 (MONDO:equivalentTo)
  • MESH:D011164 (Orphanet:738/e)
  • ICD9:277.1 (DOID:13268)
  • MedDRA:10036181 (Orphanet:738/e)
  • SCTID:418470004 (MONDO:relatedTo)
  • Orphanet:738 (MONDO:equivalentTo)
  • MedDRA:10061356 (Orphanet:738/e)
  • NCIT:C97096 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, nord_rare, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10061356

http://identifiers.org/meddra/10036181

comment

Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic

exactMatch

http://purl.obolibrary.org/obo/NCIT_C97096

http://identifiers.org/mesh/D011164

http://linkedlifedata.com/resource/umls/id/C1275125

http://identifiers.org/medgen/698423

http://www.orpha.net/ORDO/Orphanet_738

http://purl.obolibrary.org/obo/DOID_13268

http://identifiers.org/snomedct/371628009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has broad synonym

disorder of porphyrin and heme metabolism

porphyria

disorder of porphyrin metabolism

has related synonym

Hematoporphyria

Porphyrinopathy

id

MONDO:0019142

seeAlso

https://rarediseases.info.nih.gov/diseases/10353/porphyria