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Chediak-Higashi Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D002609

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.

Instance info

Synonyms

Syndrome, Chediak-Higashi, Chediak-Steinbrinck-Higashi Syndrome, Chediak Higashi Syndrome, Chediak-Steinbrinck-Higashi-Syndrom (DE), Chediak Steinbrinck Higashi Syndrome, Syndromes, Chediak-Steinbrinck-Higashi, Chediak-Steinbrinck-Higashi Syndromes, Oculocutaneous Albinism with Leukocyte Defect, Syndrome, Chediak-Steinbrinck-Higashi, Chediak-Higashi-Syndrom (DE)

AN

"a form of phagocyte bactericidal dysfunct"

AQL

BL CF CI CL CN 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

DC

1

DX

19710101

FX

D000453

HN

71

MDA

19990101

MMR

20180615

MN

C15.378.553.774.257,C11.270.040.772,C20.673.774.257

PM

71

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D000453,http://purl.bioontology.org/ontology/MESH/D000417

SIB

http://purl.bioontology.org/ontology/MESH/D016117,http://purl.bioontology.org/ontology/MESH/D016115,http://purl.bioontology.org/ontology/MESH/D006105,http://purl.bioontology.org/ontology/MESH/D007589

TERMUI

T007597,T841104,T841105

TH

GHR (2014),NLM (1971),ORD (2010),OMIM (2013),NLM (2014)

cui

C0007965

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

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

tui

T047

Instance relations

Types