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DeCS
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Descriptor English:
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Chediak-Higashi Syndrome
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Descriptor Spanish:
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síndrome de Chediak-Higashi
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Descriptor Portuguese:
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Síndrome de Chediak-Higashi
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Synonyms English:
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Chediak Higashi Syndrome
Chediak Steinbrinck Higashi Syndrome
Chediak-Steinbrinck-Higashi Syndrome
Chediak-Steinbrinck-Higashi Syndromes
Oculocutaneous Albinism with Leukocyte Defect
Syndrome, Chediak-Higashi
Syndrome, Chediak-Steinbrinck-Higashi
Syndromes, Chediak-Steinbrinck-Higashi
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Tree Number:
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C11.270.040.772
C15.378.553.774.257
C20.673.774.257
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Definition English:
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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. |
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See Related English:
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Aleutian Mink Disease
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History Note English:
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71
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Allowable Qualifiers English:
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Record Number:
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2654
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Unique Identifier:
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D002609
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Occurrence in VHL:
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Similar:
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DeCS
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