Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

porphyria
Synonyms

Hematoporphyria

disorder of porphyrin and hem metabolism
Definitions

An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
ID

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

UMLS_CUI:C0032708

MESH:D011164

ICD10CM:E80.20

ICD9CM:277.1

SNOMEDCT_US_2023_03_01:190912004

GARD:10353

NCI:C97096
definition

An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
has exact synonym

Hematoporphyria

Porphyrinopathy

disorder of porphyrin metabolism

disorder of porphyrin and hem metabolism
has_obo_namespace

disease_ontology
id

DOID:13268
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

porphyria
notation

DOID:13268
prefLabel

porphyria
subClassOf

http://purl.obolibrary.org/obo/DOID_655
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13268 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_13268 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_13268 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_13268 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_13268 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_13268 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0037939 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_13268 DTO LOOM
http://purl.obolibrary.org/obo/DOID_13268 BAO LOOM
http://purl.obolibrary.org/obo/DOID_13268 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_13268 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_13268 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_13268 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/1849-7403 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0032708 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2100173 NANDO LOOM
http://purl.jp/bio/4/id/200906069079643536 IOBC LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032708 MEDLINEPLUS LOOM
http://nanbyodata.jp/ontology/NANDO_1200811 NANDO LOOM
https://github.com/sap218/ocimido/blob/master/ontology/ocimido.owl#OCIMIDO_00647 OCIMIDO LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99026 ICPC2P LOOM
http://purl.bioontology.org/ontology/MEDDRA/10036181 MEDDRA LOOM
http://purl.bioontology.org/ontology/WHO/0362 WHO-ART LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97096 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/418470004 SNOMEDCT LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Porphyria APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Porphyria APAONTO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#9972 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0000560 DERMO LOOM
http://purl.obolibrary.org/obo/MP_0005654 MP LOOM
http://purl.obolibrary.org/obo/MP_0005654 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0005654 CHIRO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Porphyria CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C97096 BERO LOOM
http://www.ebi.ac.uk/efo/EFO_0000665 CLO LOOM
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClassbbc84b2b_d2fb_44e0_bc4b_b63e390a0b38 WWECA LOOM
http://www.gamuts.net/entity#porphyria GAMUTS LOOM
http://localhost/plosthes.2017-1#283 PLOSTHES LOOM
http://www.co-ode.org/ontologies/galen#Porphyria GALEN LOOM
http://purl.obolibrary.org/obo/MONDO_0037939 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0037939 DOVES LOOM
http://www.orpha.net/ORDO/Orphanet_738 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_657 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU018705 OMIM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13268 NATPRO LOOM
http://purl.bioontology.org/ontology/CST/PORPHYRIA COSTART LOOM
http://purl.bioontology.org/ontology/NCBITAXON/1162790 NCBITAXON LOOM
https://github.com/sap218/coid/blob/master/coid.owl#COID_01166 COID LOOM
http://purl.obolibrary.org/obo/OGMD_0000071 OGMD LOOM
http://purl.bioontology.org/ontology/CST/METPORPHYRIA COSTART LOOM
http://www.gamuts.net/entity#porphyria GAMUTS REST