Hermansky-Pudlak syndrome 3
Hermasky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24
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Hermansky-Pudlak syndrome 3
Summary
Hermansky-Pudlak syndrome 3 is a class of disease[1].
Key Facts
- Hermansky-Pudlak syndrome 3's instance of is recorded as class of disease[2].
- Hermansky-Pudlak syndrome 3's subclass of is recorded as Hermansky-Pudlak syndrome[3].
- Hermansky-Pudlak syndrome 3's OMIM ID is recorded as 614072[4].
- Hermansky-Pudlak syndrome 3's Disease Ontology ID is recorded as DOID:0060541[5].
- Hermansky-Pudlak syndrome 3's genetic association is recorded as HPS3[6].
- Hermansky-Pudlak syndrome 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060541[7].
- Hermansky-Pudlak syndrome 3's exact match is recorded as http://identifiers.org/doid/DOID:0060541[8].
- Hermansky-Pudlak syndrome 3's UMLS CUI is recorded as C3888001[9].
- Hermansky-Pudlak syndrome 3's UMLS CUI is recorded as C1423606[10].
- Hermansky-Pudlak syndrome 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
- Hermansky-Pudlak syndrome 3's Mondo ID is recorded as MONDO_0013555[12].
- Hermansky-Pudlak syndrome 3's UniProt disease ID is recorded as DI-00559[13].