Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

genetic disease

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

NCI:C3101

SNOMEDCT_US_2022_09_01:32895009

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_CFDE_slim

http://purl.obolibrary.org/obo/doid#DO_RAD_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 International Classification of Diseases Ontology LOOM
http://purl.obolibrary.org/obo/DOID_630 International Classification of Diseases Ontology SAME_URI
http://purl.obolibrary.org/obo/DOID_630 Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR) SAME_URI
http://purl.obolibrary.org/obo/DOID_630 Cell Line Ontology (Chinese Translation) SAME_URI