Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614072 http://purl.bioontology.org/ontology/OMIM/614072
Preferred Name	HERMANSKY-PUDLAK SYNDROME 3
Synonyms	HPS3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HPS3
prefLabel	HERMANSKY-PUDLAK SYNDROME 3
Gene Symbol	HPS3
Scope Statement	Less severe phenotype than patients with other forms of HPS [MISCELLANEOUS] Caused by mutation in the HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 gene (HPS3, 606118.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU004441 http://purl.bioontology.org/ontology/OMIM/MTHU058872 http://purl.bioontology.org/ontology/OMIM/MTHU058873 http://purl.bioontology.org/ontology/OMIM/MTHU058874 http://purl.bioontology.org/ontology/OMIM/MTHU020238 http://purl.bioontology.org/ontology/OMIM/MTHU000436 http://purl.bioontology.org/ontology/OMIM/MTHU058175 http://purl.bioontology.org/ontology/OMIM/MTHU008446 http://purl.bioontology.org/ontology/OMIM/MTHU058871 http://purl.bioontology.org/ontology/OMIM/MTHU012705 http://purl.bioontology.org/ontology/OMIM/MTHU058875 See more See less
tui	T047
Gene Locus	3q24
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614072
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3888001
OMIM Entry Type	3
OMIM MimType Value	pound

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