Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

complement deficiency
Synonyms

Complement deficiency disease

Definitions

A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.

ID

http://purl.obolibrary.org/obo/DOID_626

database_cross_reference

ICD10CM:D84.1

UMLS_CUI:C0272242

SNOMEDCT_US_2023_03_01:191014008

MESH:D000081208

NCI:C4691

definition

A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.

has exact synonym

Complement deficiency disease

has_obo_namespace

disease_ontology

id

DOID:626

in_subset

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

label

complement deficiency

notation

DOID:626

prefLabel

complement deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_612

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_626 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_626 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_626 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_626 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_626 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_626 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_626 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0003832 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0003832 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0003832 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0003832 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0003832 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0003832 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0003832 OBA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0272242 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Complement_Deficiency RPO LOOM
http://purl.bioontology.org/ontology/RCD/X20Hs RCD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00008535 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C4691 BERO LOOM
http://purl.jp/bio/4/id/200906048634667830 IOBC LOOM
http://purl.obolibrary.org/obo/DOID_626 DTO LOOM
http://purl.obolibrary.org/obo/DOID_626 BAO LOOM
http://purl.obolibrary.org/obo/DOID_626 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_626 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_626 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_626 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_626 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_626 NATPRO LOOM
http://purl.bioontology.org/ontology/CSP/1560-6347 CRISP LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4691 NCIT LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2253 IFAR LOOM