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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:Typically de novo
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Accession:HP:0025352 term browser browse the term
Definition:Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.
Synonyms:exact_synonym: Autosomal dominant germline de novo mutation


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Typically de novo term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 IAGP HPO OMIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO OMIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO OMIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G EIF2AK1 eukaryotic translation initiation factor 2 alpha kinase 1 IAGP HPO OMIM:618878 NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO OMIM:617768 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO OMIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:619538 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO OMIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO OMIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G SEMA6B semaphorin 6B IAGP HPO OMIM:618876 NCBI chr19:4,542,593...4,559,684
Ensembl chr19:4,542,593...4,581,776 		JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A IAGP HPO OMIM:619769 NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899 		JBrowse link
Term paths to the root
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Term Annotations click to browse term
  Human phenotype 21570
    Mode of inheritance 4760
      Inheritance qualifier 336
        Typically de novo 12
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