| Metadata | |
|---|---|
| ID | DOID:0061301 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061301 Copy |
| Name | Hermansky-Pudlak syndrome 11 |
| Definition | A Hermansky-Pudlak syndrome characterized by mild oculocutaneous albinism in association with a moderate bleeding diathesis that has_material_basis_in homozygous mutation in the BLOC1S5 gene on chromosome 6p24. https://pubmed.ncbi.nlm.nih.gov/32565547/ |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |