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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:Mode of inheritance
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Accession:HP:0000005 term browser browse the term
Definition:The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
Comment:While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice.
Synonyms:exact_synonym: Inheritance
 alt_id: HP:0001425;   HP:0001453;   HP:0001461;   HP:0010985
 xref: UMLS:C1708511



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Path 1
Term Annotations click to browse term
  Human phenotype 0
    Mode of inheritance 0
      Inheritance qualifier + 0
      Mendelian inheritance + 0
      Non-Mendelian inheritance + 0
      Sporadic 0
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