Human Disease Ontology

Last uploaded: June 2, 2024
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Preferred Name

Chediak-Higashi syndrome
Synonyms

CHS
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_2935
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0007965

SNOMEDCT_US_2023_03_01:111396008

MESH:D002609

ICD10CM:E70.330

GARD:6035

MIM:214500

NCI:C2941

ORDO:167
definition

A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42.
has exact synonym

CHS

Chediak - Steinbrinck anomaly
has material basis in

http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace

disease_ontology
id

DOID:2935
in_subset

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

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

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

Chediak-Higashi syndrome
notation

DOID:2935
prefLabel

Chediak-Higashi syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2935 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2935 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2935 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2935 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2935 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008963 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008963 EFO LOOM
http://purl.obolibrary.org/obo/DERMO_0000222 DERMO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037483 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MESH/D002609 MESH LOOM
http://purl.bioontology.org/ontology/OMIM/214500 OMIM LOOM
http://identifiers.org/omim/214500 REXO LOOM
http://identifiers.org/omim/214500 GEXO LOOM
http://identifiers.org/omim/214500 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.673.774.257 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D002609 MDM LOOM
http://purl.obolibrary.org/obo/OMIT_0003935 OMIT LOOM
http://purl.obolibrary.org/obo/MONDO_0008963 DOVES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2935 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10008415 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_2935 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2935 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2935 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2935 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2935 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/1849-1918 CRISP LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15502 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.553.774.257 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/C302800 RCTV2 LOOM
http://purl.obolibrary.org/obo/OMIM_214500 CCO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_249 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A2430 SNMI LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2941 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.330 ICD10CM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0007965 OCHV LOOM
http://purl.obolibrary.org/obo/NCIT_C2941 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#2726 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D002609 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X20Dv RCD LOOM
http://purl.jp/bio/4/id/200906086134097300 IOBC LOOM
http://www.gamuts.net/entity#Chédiak_Higashi_syndrome GAMUTS REST