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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Autosomal recessive inheritance
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Accession:HP:0000007 term browser browse the term
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).
Synonyms:exact_synonym: Autosomal recessive;   biallelic_autosomal
 related_synonym: AUTOSOMAL RECESSIVE FORM;   Autosomal recessive predisposition
 alt_id: HP:0001416;   HP:0001526;   HP:0031362
 xref: SNOMEDCT_US:258211005;   UMLS:C0441748;   UMLS:C4020899


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      Human phenotype 21570
        Mode of inheritance 4760
          Mendelian inheritance 4708
            Autosomal recessive inheritance 3051
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