Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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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

CHS1

LYST
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU041794

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

214500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CHEDIAK-HIGASHI SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2935 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2941 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D002609 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D002609 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/D72.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.330 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.330 International Classification of Diseases, Version 10 - Clinical Modification LOOM