Human Disease Ontology

Last uploaded: May 1, 2024
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Preferred Name

genetic disease
Synonyms
Definitions

A disease that has_material_basis_in genetic variations in the human genome.
ID

http://purl.obolibrary.org/obo/DOID_630
database_cross_reference

UMLS_CUI:C0019247

SNOMEDCT_US_2023_03_01:32895009

NCI:C3101

MESH:D030342
definition

A disease that has_material_basis_in genetic variations in the human genome.
has_obo_namespace

disease_ontology
id

DOID:630
in_subset

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

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

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

genetic disease
notation

DOID:630
prefLabel

genetic disease
subClassOf

http://purl.obolibrary.org/obo/DOID_4
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http://purl.obolibrary.org/obo/DOID_630 HTN SAME_URI
http://purl.obolibrary.org/obo/DOID_630 RBO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 EUPATH SAME_URI
http://purl.obolibrary.org/obo/DOID_630 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 CVDO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 INBANCIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_630 ODAE SAME_URI
http://purl.obolibrary.org/obo/DOID_630 CIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_630 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_630 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_630 HTN LOOM
http://purl.obolibrary.org/obo/DOID_630 RBO LOOM
http://purl.obolibrary.org/obo/DOID_630 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_630 INBANCIDO LOOM
http://purl.obolibrary.org/obo/DOID_630 DTO LOOM
http://purl.obolibrary.org/obo/DOID_630 BAO LOOM
http://purl.obolibrary.org/obo/DOID_630 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_630 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_630 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_630 CIDO LOOM
http://purl.obolibrary.org/obo/DOID_630 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_630 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_630 NATPRO LOOM
http://www.ifomis.org/hdot/HDOT_CORE_003 VDOT LOOM
http://www.shojaee.com/shr/shr.owl#Genetic_Disease SHR LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019247 OCHV LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/782964007 SNOMEDCT LOOM
http://www.semanticweb.org/cjf/ontologies/2022/8/NeuralReprogrammingOntology(NRO)#genetic_disease NRO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Genetic_Disease EPISEM LOOM