Visualize Submit Comment

Metadata
ID	DOID:0061300
PURL	http://purl.obolibrary.org/obo/DOID_0061300 Copy Copied!
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	is_a Hermansky-Pudlak syndrome
Subclass Logical Relationships	existence starts during some Infantile onset has material basis in some autosomal recessive inheritance