Mondo Disease Ontology

Last uploaded: November 25, 2024
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Preferred Name

inherited porphyria
Synonyms

Porphyrinopathy

Hematoporphyria

disorder of porphyrin metabolism

porphyria

disorder of porphyrin and heme metabolism

disorder of porphyrin and hem metabolism

hereditary porphyria
Definitions

Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic
ID

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

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

SCTID:418470004

MESH:D011164

MEDGEN:698423

GARD:10353

SCTID:371628009

MedDRA:10061356

UMLS:C1275125

NCIT:C97096

ICD9:277.1

NANDO:2200610

MedDRA:10036181

Orphanet:738

DOID:13268
definition

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

disorder of porphyrin metabolism

porphyria

disorder of porphyrin and heme metabolism
has_exact_synonym

disorder of porphyrin and hem metabolism

hereditary porphyria
has_related_synonym

Porphyrinopathy

Hematoporphyria
id

MONDO:0019142
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

inherited porphyria
notation

MONDO:0019142
prefLabel

inherited porphyria
seeAlso

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

http://identifiers.org/meddra/10061356

http://identifiers.org/meddra/10036181
skos_exactMatch

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

http://identifiers.org/snomedct/371628009

http://purl.obolibrary.org/obo/Orphanet_738

http://identifiers.org/medgen/698423

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

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml
treeView

http://purl.obolibrary.org/obo/MONDO_0015951

http://purl.obolibrary.org/obo/MONDO_0017754

http://purl.obolibrary.org/obo/MONDO_0037939
excluded subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0015951

http://purl.obolibrary.org/obo/MONDO_0017754

http://purl.obolibrary.org/obo/MONDO_0037939
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