BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Hermansky-Pudlak syndrome
Synonyms
Definitions

A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_3753

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

ORDO:231531

ORDO:231537

MESH:D022861

UMLS_CUI:C0079504

ICD10CM:E70.331

SNOMEDCT_US_2020_03_01:60255003

ORDO:280663

OMIM:PS203300

GARD:6643

NCI:C37261

ORDO:79430

has_obo_namespace

disease_ontology

id

DOID:3753

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Hermansky-Pudlak syndrome

notation

DOID:3753

prefLabel

Hermansky-Pudlak syndrome

textual definition

A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_3753 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_3753 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_3753 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_3753 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_3753 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019312 EFO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079504 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37261 NCIT LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.331 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11456 HRDO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15320 DERMLEX LOOM
http://purl.obolibrary.org/obo/MONDO_0019312 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0019312 DOVES LOOM
http://purl.obolibrary.org/obo/DERMO_0000212 DERMO LOOM
http://purl.obolibrary.org/obo/DOID_3753 DOID LOOM
http://purl.obolibrary.org/obo/DOID_3753 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3753 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_3753 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3753 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hermansky-Pudlak_Syndrome CSEO LOOM
rgo:22705 GAMUTS LOOM
http://purl.bioontology.org/ontology/RCD/X20Ex RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071775 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C37261 BERO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A2420 SNMI LOOM
http://nanbyodata.jp/ontology/NANDO_1200638 NANDO LOOM
http://purl.bioontology.org/ontology/RCTV2/C302900 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/9311003 SNOMEDCT LOOM
http://www.orpha.net/ORDO/Orphanet_79430 ORDO LOOM

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

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A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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