Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CHEDIAK-HIGASHI SYNDROME
Synonyms

CHS
ID

http://purl.bioontology.org/ontology/OMIM/214500
altLabel

CHS
cui

C0007965
Gene Locus

1q42.3
Gene Symbol

LYST

CHS1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU013915

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU013920

http://purl.bioontology.org/ontology/OMIM/MTHU041792

http://purl.bioontology.org/ontology/OMIM/MTHU013909

http://purl.bioontology.org/ontology/OMIM/MTHU041791

http://purl.bioontology.org/ontology/OMIM/MTHU003224

http://purl.bioontology.org/ontology/OMIM/MTHU009674

http://purl.bioontology.org/ontology/OMIM/MTHU041790

http://purl.bioontology.org/ontology/OMIM/MTHU041793

http://purl.bioontology.org/ontology/OMIM/MTHU013923

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU005584

http://purl.bioontology.org/ontology/OMIM/MTHU006299

http://purl.bioontology.org/ontology/OMIM/MTHU007383

http://purl.bioontology.org/ontology/OMIM/MTHU013912

http://purl.bioontology.org/ontology/OMIM/MTHU013921

http://purl.bioontology.org/ontology/OMIM/MTHU009719

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU013924

http://purl.bioontology.org/ontology/OMIM/MTHU013922

http://purl.bioontology.org/ontology/OMIM/MTHU013913

http://purl.bioontology.org/ontology/OMIM/MTHU001005

http://purl.bioontology.org/ontology/OMIM/MTHU007445

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU013919

http://purl.bioontology.org/ontology/OMIM/MTHU013914

http://purl.bioontology.org/ontology/OMIM/MTHU013916

http://purl.bioontology.org/ontology/OMIM/MTHU013911

http://purl.bioontology.org/ontology/OMIM/MTHU036911

http://purl.bioontology.org/ontology/OMIM/MTHU013918

http://purl.bioontology.org/ontology/OMIM/MTHU013917

http://purl.bioontology.org/ontology/OMIM/MTHU013910

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

214500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHEDIAK-HIGASHI SYNDROME
Scope Statement

Caused by mutation in the lysosomal trafficking regulator gene (CHS1, 606897.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D002609 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10008415 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D002609 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/111396008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10008415 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/D72.0 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10004202 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10008415 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-1918 CRISP CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2430 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10004202 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.330 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10004202 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/111396008 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000743 NDFRT CUI
http://purl.bioontology.org/ontology/RCD/X20Dv RCD CUI
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://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 DOID 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