Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
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.

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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http://purl.obolibrary.org/obo/MONDO_0000429 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0000429 GenEpiO / 基因组流行病学本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050739 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050739 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.obolibrary.org/obo/DOID_0050739 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050739 Coronavirus Infectious Disease Ontology / 冠状病毒感染性疾病本体 SAME_URI