Preferred Name |
Chediak-Higashi syndrome |
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Synonyms |
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Definitions |
(CHS): A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). |
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ID |
http://purl.obolibrary.org/obo/OMIM_214500 |
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definition |
(CHS): A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:214500 |
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label |
Chediak-Higashi syndrome |
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notation |
OMIM:214500 |
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prefLabel |
Chediak-Higashi syndrome |
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treeView | ||
subClassOf |