RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Hermansky-Pudlak syndrome 1
Accession: DOID:0060539
browse the term
Definition: A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)
Synonyms: exact_synonym: HPS1; HPS1-RELATED CONDITION; albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; delta storage pool disease
broad_synonym: HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS
primary_id: MESH:C538539
alt_id: OMIM:203300
xref: NCI:C150367
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AP3B1
adaptor related protein complex 3 subunit beta 1
ISO
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:86,875,922...87,142,722
Ensembl chr 2:86,873,290...87,142,768
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AP3D1
adaptor related protein complex 3 subunit delta 1
ISO
OMIM:203300
MouseDO
NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257
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BLOC1S6
biogenesis of lysosomal organelles complex 1 subunit 6
ISO
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
ClinVar
PMID:25741868 PMID:28492532 PMID:33543539
NCBI chr 1:126,168,944...126,184,813
Ensembl chr 1:126,165,994...126,184,858
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CP
ceruloplasmin
ISO
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,708...89,463,476
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HPS1
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
ISO
ClinVar Annotator: match by term: HPS1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1
OMIM ClinVar
PMID:8274781 PMID:8896559 PMID:9345105 PMID:9497254 PMID:9536098 PMID:9562579 PMID:9705234 PMID:10971344 PMID:12442288 PMID:14510955 PMID:15519141 PMID:15952982 PMID:16185271 PMID:16199547 PMID:17365864 PMID:17576681 PMID:18326704 PMID:19334085 PMID:19398212 PMID:19665357 PMID:20301464 PMID:20514622 PMID:20662851 PMID:21458243 PMID:21833017 PMID:24033266 PMID:24583434 PMID:25741868 PMID:25741915 PMID:26575419 PMID:26785811 PMID:26806224 PMID:27593200 PMID:28081892 PMID:28492532 PMID:29345414 PMID:29941477 PMID:30387913 PMID:30634918 PMID:30985222 PMID:31064749 PMID:31141302 PMID:31898847 PMID:32581362 PMID:32662942 PMID:32725903 PMID:33878481 PMID:34216551 PMID:34362826 PMID:34838614 More...
NCBI chr14:109,730,597...109,755,288
Ensembl chr14:109,730,598...109,751,985
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HPS3
HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
ISO
ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
ClinVar
PMID:11590544 PMID:25741868 PMID:28492532 PMID:31898847
NCBI chr13:89,360,829...89,409,502
Ensembl chr13:89,360,874...89,410,525
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RAB27A
RAB27A, member RAS oncogene family
ISO
OMIM:203300
MouseDO
NCBI chr 1:116,532,816...116,606,477
Ensembl chr 1:116,532,974...116,606,474
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