BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

oculocutaneous albinism

Synonyms
Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

ID

http://purl.obolibrary.org/obo/DOID_0050632

comment

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

database_cross_reference

OMIM:PS203100

ICD10CM:E70.3

MESH:D016115

GARD:10958

ORDO:55

has_obo_namespace

disease_ontology

id

DOID:0050632

imported from

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

in_subset

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

label

oculocutaneous albinism

notation

DOID:0050632

prefLabel

oculocutaneous albinism

textual definition

A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.

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_0050632 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050632 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050632 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050632 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050632 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050632 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050632 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018910 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200986 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0050632 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_1200637 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018910 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050632 DOID LOOM
http://purl.bioontology.org/ontology/RCD/X40Rp RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0018910 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84941 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/63844009 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DERMO_0000197 DERMO LOOM
http://purl.obolibrary.org/obo/NCIT_C84941 BERO LOOM
http://purl.obolibrary.org/obo/DOID_0050632 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050632 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050632 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050632 FNS-H LOOM
http://purl.bioontology.org/ontology/ICD10CM/E70.32 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_311 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0078918 OCHV LOOM
http://www.orpha.net/ORDO/Orphanet_55 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Oculocutaneous_Albinism CSEO 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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