loading...| Preferred Name |
Chediak-Higashi Syndrome [Disease/Finding] |
|
| Synonyms |
Oculocutaneous Albinism with Leukocyte Defect Chediak-Steinbrinck-Higashi Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000743 |
|
| altLabel |
Oculocutaneous Albinism with Leukocyte Defect Chediak-Higashi Syndrome Chediak-Steinbrinck-Higashi Syndrome |
|
| cui |
C0007965 |
|
| MESH DEFINITION |
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. |
|
| MESH DUI |
D002609 |
|
| MeSH name |
Chediak-Higashi Syndrome |
|
| MESH UI |
M0003997 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000000743 |
|
| NUI |
N0000000743 |
|
| prefLabel |
Chediak-Higashi Syndrome [Disease/Finding] |
|
| SNOMED CID |
111396008 |
|
| tui |
T047 |
|
| subClassOf |