Hermansky-Pudlak syndrome 4 - Ontology Report

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 4	go back to main search page
Accession:	DOID:0060542	browse the term
Definition:	A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)
Synonyms:	exact_synonym:	HPS4; HPS4-RELATED CONDITION
	broad_synonym:	HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS
	primary_id:	OMIM:614073

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Genes (2)

Hermansky-Pudlak syndrome 4

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Hps1

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

ISO

ClinVar Annotator: match by term: Hermansky-Pudlak syndrome with pulmonary fibrosis

ClinVar

PMID:12442288 PMID:16185271 PMID:25741868 PMID:28492532

NCBI chr 1:241,551,180...241,577,292
Ensembl chr 1:241,551,175...241,577,268

Hps4

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

ISO
ISS

ClinVar Annotator: match by term: HPS4-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 4
OMIM:614073

OMIM
ClinVar
MouseDO

PMID:11836498 PMID:12664304 PMID:15108212 PMID:16199547 PMID:20158590 More...

NCBI chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632

Term paths to the root

Path 1
Term	Annotations
disease	18969
syndrome	10889
oculocutaneous albinism	81
Syndromic Oculocutaneous Albinism	66
Hermansky-Pudlak syndrome	35
Hermansky-Pudlak syndrome 4	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
Neurologic Manifestations	10055
sensory system disease	6961
skin disease	3968
pigmentation disease	278
Hypopigmentation	155
Albinism	98
oculocutaneous albinism	81
Syndromic Oculocutaneous Albinism	66
Hermansky-Pudlak syndrome	35
Hermansky-Pudlak syndrome 4	2

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS