Human Disease Ontology

Last uploaded: February 28, 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

definition

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

has_obo_namespace

disease_ontology

id

DOID:0050739

in_subset

http://purl.obolibrary.org/obo/doid#DO_MGI_slim

label

autosomal genetic disease

notation

DOID:0050739

prefLabel

autosomal genetic disease

subClassOf

http://purl.obolibrary.org/obo/DOID_4

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 BAO 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 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 EFO LOOM
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 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 BAO 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