BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

autosomal dominant disease

Synonyms
Definitions

An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

ID

http://purl.obolibrary.org/obo/DOID_0050736

created_by

lschriml

creation_date

2012-07-24T12:51:47Z

has_obo_namespace

disease_ontology

id

DOID:0050736

imported from

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

label

autosomal dominant disease

notation

DOID:0050736

prefLabel

autosomal dominant disease

textual definition

An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.

subClassOf

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

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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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