BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

autosomal genetic disease

Synonyms
Definitions

A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.

ID

http://purl.obolibrary.org/obo/DOID_0050739

created_by

lschriml

creation_date

2012-07-24T04:45:53Z

has_obo_namespace

disease_ontology

id

DOID:0050739

imported from

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

in_subset

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

label

autosomal genetic disease

notation

DOID:0050739

prefLabel

autosomal genetic disease

textual definition

A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050177

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050739 HTN SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 INBANCIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 ODAE SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 CIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0000429 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 KTAO LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 GENEPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050739 HTN LOOM
http://purl.obolibrary.org/obo/DOID_0050739 INBANCIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050739 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050739 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050739 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_0050739 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050739 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_0050739 CIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050739 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050739 FNS-H 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.

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

Term description (required)
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.

Superclass (required)
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

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

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