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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:Beta-cell dysfunction
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Accession:HP:0006279 term browser browse the term
Synonyms:xref: UMLS:C1969875


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Beta-cell dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPE carboxypeptidase E IAGP DNA:SNP:cds (rs1583645) (human) RGD PMID:23776430 RGD:405650683 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G GCK glucokinase IAGP DNA:SNP:promoter:-30G>A(human) RGD PMID:15173029 RGD:2301876 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G IDE insulin degrading enzyme IAGP DNA:SNP:cds (rs6583813) (human) RGD PMID:23776430 RGD:405650683 NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096 		JBrowse link
G PAX4 paired box 4 IAGP HPO OMIM:612227 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PTH parathyroid hormone IAGP DNA:snp:exon:g.350C>A (rs6256) RGD PMID:22777106 RGD:7242744 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the endocrine system 2652
        Abnormality of endocrine pancreas physiology 34
          Abnormality of the pancreatic islet cells 31
            Beta-cell dysfunction 5
Path 2
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the digestive system 4683
        Abnormality of the abdominal organs 1705
          Abnormality of the pancreas 355
            Abnormality of pancreas physiology 191
              Abnormality of endocrine pancreas physiology 34
                Abnormality of the pancreatic islet cells 31
                  Beta-cell dysfunction 5
paths to the root