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loading...| Preferred Name |
Hermanski-Pudlak Syndrome [Disease/Finding] |
|
| Synonyms |
Hermansky-Pudlak Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000004251 |
|
| altLabel |
Hermansky-Pudlak Syndrome Hermanski-Pudlak Syndrome |
|
| cui |
C0079504 |
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| MESH DEFINITION |
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin. |
|
| MESH DUI |
D022861 |
|
| MeSH name |
Hermanski-Pudlak Syndrome |
|
| MESH UI |
M0024620 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000004251 |
|
| NUI |
N0000004251 |
|
| prefLabel |
Hermanski-Pudlak Syndrome [Disease/Finding] |
|
| SNOMED CID |
9311003 |
|
| tui |
T047 |
|
| subClassOf |
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