Preferred Name |
Chediak-Higashi syndrome |
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Synonyms |
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Definitions |
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene. |
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ID |
http://purl.obolibrary.org/obo/DOID_2935 |
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definition |
A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene. |
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imported from | ||
label |
Chediak-Higashi syndrome |
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prefixIRI |
DOID:2935 |
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prefLabel |
Chediak-Higashi syndrome |
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subClassOf |
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