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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term:heart valve hypoplasia
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Accession:MP:0000287 term browser browse the term
Definition:decrease in the number of normal cells in normal arrangement in any of the heart valves, typically resulting in decreased size
Synonyms:exact_synonym: hypoplastic heart valves


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heart valve hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 IAGP MGI PMID:31232685 NCBI chr 7:101,859,153...101,887,771
Ensembl chr 7:101,859,415...101,887,774 		JBrowse link
mitral valve hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdha9 protocadherin alpha 9 IAGP MGI PMID:28530678 NCBI chr18:37,130,933...37,320,710
Ensembl chr18:37,130,933...37,320,710 		JBrowse link
G Sap130 Sin3A associated protein IAGP MGI PMID:28530678 NCBI chr18:31,767,436...31,856,121
Ensembl chr18:31,767,424...31,856,114 		JBrowse link
semilunar valve hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 IAGP MGI PMID:15070745 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Nkx2-5 NK2 homeobox 5 IAGP MGI PMID:15070745 NCBI chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G Sox11 SRY (sex determining region Y)-box 11 IAGP MGI PMID:20596238 NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573 		JBrowse link
G Sox4 SRY (sex determining region Y)-box 4 IAGP MGI PMID:20596238 NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 16965
    cardiovascular system phenotype 4208
      abnormal cardiovascular system morphology 3314
        abnormal heart morphology 2442
          abnormal heart valve morphology 227
            heart valve hypoplasia 7
              atrioventricular valve hypoplasia + 2
              semilunar valve hypoplasia + 4
paths to the root