| Metadata | |
|---|---|
| ID | DOID:0061300 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061300 Copy |
| Name | Hermansky-Pudlak syndrome 10 |
| Definition | A Hermansky-Pudlak syndrome characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures that has_material_basis_in homozygous mutation in the AP3D1 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/26744459/ |
| Parent Relationships |