Human Phenotype Ontology

Last uploaded: October 9, 2018
Preferred Name

Autosomal recessive inheritance

Synonyms

Autosomal recessive form

Autosomal recessive

Autosomal recessive predisposition

Definitions

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

ID

http://purl.obolibrary.org/obo/HP_0000007

database_cross_reference

UMLS:C4020899

UMLS:C0441748

SNOMEDCT_US:258211005

definition

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).

has_alternative_id

HP:0001416

HP:0001526

has_exact_synonym

Autosomal recessive

has_obo_namespace

human_phenotype

has_related_synonym

Autosomal recessive form

Autosomal recessive predisposition

id

HP:0000007

label

Autosomal recessive inheritance

notation

HP:0000007

prefLabel

Autosomal recessive inheritance

treeView

http://purl.obolibrary.org/obo/HP_0000005

subClassOf

http://purl.obolibrary.org/obo/HP_0000005

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http://purl.org/obo/owl/HP#HP_0000007 Bone Dysplasia Ontology LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/258211005 SNOMED CT LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Autosomal_Recessive_Inheritance Epilepsy Syndrome Seizure Ontology LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94246 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/RCD/X7A5p Read Codes, Clinical Terms Version 3 (CTV3) LOOM
http://purl.obolibrary.org/obo/HP_0000007 Children's Health Exposure Analysis Resource LOOM
http://purl.obolibrary.org/obo/HP_0000007 Children's Health Exposure Analysis Resource SAME_URI
http://purl.obolibrary.org/obo/HP_0000007 Combined Phenotype Ontology LOOM
http://purl.obolibrary.org/obo/HP_0000007 Combined Phenotype Ontology SAME_URI
http://purl.obolibrary.org/obo/HP_0000007 Monarch Disease Ontology LOOM
http://purl.obolibrary.org/obo/HP_0000007 Monarch Disease Ontology SAME_URI
http://purl.jp/bio/4/id/200906019875476130 Interlinking Ontology for Biological Concepts LOOM
http://purl.obolibrary.org/obo/GENO_0000150 Genotype Ontology LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_52120 Disease core ontology applied to Rare Diseases LOOM