Preferred Name |
Chediak-Higashi syndrome |
|
Synonyms |
CHS |
|
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). |
|
ID |
http://identifiers.org/omim/214500 |
|
altLabel |
CHS |
|
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). |
|
id |
OMIM:214500 |
|
notation |
OMIM:214500 |
|
prefLabel |
Chediak-Higashi syndrome |
|
subClassOf |