Preferred Name |
Chediak Higashi syndrome |
|
Synonyms |
Beguez Cesar disease |
|
Definitions |
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; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. |
|
ID |
http://purl.bioontology.org/ontology/CSP/1849-1918 |
|
altLabel |
Beguez Cesar disease Chediak Higashi anomaly |
|
cui |
C0007965 |
|
definition |
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; transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. |
|
DID |
1849-1918 |
|
Inverse of RB | ||
Inverse of RO | ||
notation |
1849-1918 |
|
prefLabel |
Chediak Higashi syndrome |
|
tui |
T047 |
|
subClassOf |