Hermansky-Pudlak syndrome 2
Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1
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Hermansky-Pudlak syndrome 2
Summary
Hermansky-Pudlak syndrome 2 is a class of disease[1].
Key Facts
- Hermansky-Pudlak syndrome 2's instance of is recorded as class of disease[2].
- Hermansky-Pudlak syndrome 2's subclass of is recorded as Hermansky-Pudlak syndrome[3].
- Hermansky-Pudlak syndrome 2's MeSH descriptor ID is recorded as C537709[4].
- Hermansky-Pudlak syndrome 2's OMIM ID is recorded as 608233[5].
- Hermansky-Pudlak syndrome 2's Disease Ontology ID is recorded as DOID:0060540[6].
- Hermansky-Pudlak syndrome 2's Orphanet ID is recorded as 183678[7].
- Hermansky-Pudlak syndrome 2's NCI Thesaurus ID is recorded as C150368[8].
- Hermansky-Pudlak syndrome 2's genetic association is recorded as AP3B1[9].
- Hermansky-Pudlak syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060540[10].
- Hermansky-Pudlak syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0060540[11].
- Hermansky-Pudlak syndrome 2's UMLS CUI is recorded as C1842362[12].
- Hermansky-Pudlak syndrome 2's ICD-10-CM is recorded as E70.3[13].
- Hermansky-Pudlak syndrome 2's GARD rare disease ID is recorded as 9435[14].
- Hermansky-Pudlak syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Hermansky-Pudlak syndrome 2's Mondo ID is recorded as MONDO_0011997[16].
- Hermansky-Pudlak syndrome 2's ICD-11 ID is recorded as 1415110774[17].
- Hermansky-Pudlak syndrome 2's UniProt disease ID is recorded as DI-00558[18].