Human Disease Ontology 123

Last uploaded: September 28, 2023
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Preferred Name

Kearns-Sayre syndrome
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_12934
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

GARD:6817

ICD10CM:H49.81

NCI:C84798

OMIM:530000

SNOMEDCT_US_2022_09_01:25792000

MESH:D007625

UMLS_CUI:C0022541
has_obo_namespace

disease_ontology
id

DOID:12934
in_subset

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

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

Kearns-Sayre syndrome
notation

DOID:12934
prefLabel

Kearns-Sayre syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_12558
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http://purl.bioontology.org/ontology/MESH/D007625 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/530000 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84798 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/ICD10CM/H49.81 International Classification of Diseases, Version 10 - Clinical Modification LOOM