Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Chediak-Higashi Syndrome

Synonyms

Chediak Steinbrinck Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndrome

Definitions

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

ID

http://purl.bioontology.org/ontology/MESH/D002609

altLabel

Chediak Steinbrinck Higashi Syndrome

Oculocutaneous Albinism with Leukocyte Defect

Chediak Higashi Syndrome

Chediak-Steinbrinck-Higashi Syndromes

Chediak-Steinbrinck-Higashi Syndrome

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

cui

C0007965

DC

1

definition

A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

DX

19710101

FX

D000453

HN

71

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D000453

http://purl.bioontology.org/ontology/MESH/D000417

Machine permutation

71

Mapped from

http://purl.bioontology.org/ontology/MESH/C531649

MDA

19990101

MMR

20190617

MN

C15.378.553.774.257

C16.320.798.375

C20.673.795.375

C11.270.040.772

C20.673.774.257

notation

D002609

prefLabel

Chediak-Higashi Syndrome

TERMUI

T841104

T007597

T841105

TH

OMIM (2013)

NLM (1971)

GHR (2014)

NLM (2014)

ORD (2010)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D010585

http://purl.bioontology.org/ontology/MESH/D000081207

http://purl.bioontology.org/ontology/MESH/D000417

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10008415 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10004202 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D002609 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/214500 OMIM 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/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/DOID_2935 DOID 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/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