Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1
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Hermansky-Pudlak syndrome 4
Summary
Hermansky-Pudlak syndrome 4 is a class of disease[1].
Key Facts
- Hermansky-Pudlak syndrome 4's instance of is recorded as class of disease[2].
- Hermansky-Pudlak syndrome 4's subclass of is recorded as Hermansky-Pudlak syndrome[3].
- Hermansky-Pudlak syndrome 4's OMIM ID is recorded as 614073[4].
- Hermansky-Pudlak syndrome 4's Disease Ontology ID is recorded as DOID:0060542[5].
- Hermansky-Pudlak syndrome 4's genetic association is recorded as HPS4[6].
- Hermansky-Pudlak syndrome 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060542[7].
- Hermansky-Pudlak syndrome 4's exact match is recorded as http://identifiers.org/doid/DOID:0060542[8].
- Hermansky-Pudlak syndrome 4's UMLS CUI is recorded as C3484357[9].
- Hermansky-Pudlak syndrome 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].
- Hermansky-Pudlak syndrome 4's Mondo ID is recorded as MONDO_0013556[11].
- Hermansky-Pudlak syndrome 4's UniProt disease ID is recorded as DI-00560[12].