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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Id | http://purl.obolibrary.org/obo/DOID_0050739
http://purl.obolibrary.org/obo/DOID_0050739
|
|---|---|
| Preferred Name | autosomal genetic disease |
| Definitions |
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
|---|---|
| preferred label |
autosomal genetic disease
|
| label |
autosomal genetic disease
|
| prefLabel |
autosomal genetic disease
|
| notation |
DOID:0050739
|
| in_subset | |
| creation_date |
2012-07-24T04:45:53Z
|
| id |
DOID:0050739
|
| note |
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
|
| created by |
lschriml
|
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type |
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