Experimental Factor Ontology

Last uploaded: July 4, 2024
Jump to:
loading...
Preferred Name

inherited porphyria
Synonyms

Hematoporphyria

Porphyrinopathy

disorder of porphyrin metabolism

disorder of porphyrin and heme metabolism

porphyria

hereditary porphyria

disorder of porphyrin and hem metabolism
Definitions

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

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

http://identifiers.org/meddra/10061356

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

NCIT:C97096

MESH:D011164

SCTID:371628009

MedDRA:10036181

UMLS:C1275125

NANDO:2200610

SCTID:418470004

Orphanet:738

MedDRA:10061356

DOID:13268

GARD:10353

ICD9:277.1
definition

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

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

http://identifiers.org/snomedct/371628009

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

http://identifiers.org/mesh/D011164

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

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

disorder of porphyrin metabolism

disorder of porphyrin and heme metabolism

porphyria
has_exact_synonym

hereditary porphyria

disorder of porphyrin and hem metabolism
has_related_synonym

Hematoporphyria

Porphyrinopathy
id

MONDO:0019142
in_subset

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

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

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

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

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

inherited porphyria
notation

MONDO:0019142
preferred label

inherited porphyria
prefLabel

inherited porphyria
see also

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

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
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display