BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

autosomal recessive disease

Definitions

An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

ID

http://purl.obolibrary.org/obo/DOID_0050737

created_by

lschriml

creation_date

2012-07-24T12:51:47Z

id

DOID:0050737

label

autosomal recessive disease

notation

DOID:0050737

prefLabel

autosomal recessive disease

textual definition

An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.

引自

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

有_obo_命名空间

disease_ontology

subClassOf

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

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http://purl.obolibrary.org/obo/MONDO_0006025 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0006025 GenEpiO / 基因组流行病学本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050737 Ontology of Drug Adverse Events / 药物不良反应本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050737 Ontology of Drug Adverse Events / 药物不良反应本体 SAME_URI
http://purl.obolibrary.org/obo/DOID_0050737 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0050737 Human Disease Ontology / 人类疾病本体 SAME_URI
http://www.ebi.ac.uk/efo/EFO_1000017 Experimental Factor Ontology / 实验性因素本体 LOOM