Hermansky-Pudlak syndrome type 2
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
HPS-2
|
| gptkbp:affects |
gptkb:skin
lungs eyes immune system blood platelets |
| gptkbp:firstDescribed |
1996
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hermansky-Pudlak syndrome type 2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
AP3B1 gene
|
| gptkbp:OMIM |
608233
|
| gptkbp:symptom |
immunodeficiency
pulmonary fibrosis bleeding tendency oculocutaneous albinism |
| gptkbp:bfsParent |
gptkb:APB3
|
| gptkbp:bfsLayer |
7
|