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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:Abnormal pulmonary alveolar system morphology
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Accession:HP:0033137 term browser browse the term
Definition:A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.



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Alveolar capillary dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXF1 forkhead box F1 IAGP OMIM:265380
ClinVar Annotator: match by term: Alveolar capillary dysplasia
HPO
ClinVar
NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422
JBrowse link
Hyaline membranes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUF1 GTP binding elongation factor GUF1 IAGP OMIM:617065 HPO NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928
JBrowse link
Intraalveolar nodular calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC34A2 solute carrier family 34 member 2 IAGP OMIM:265100 HPO NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Type II pneumocyte hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SFTPC surfactant protein C IAGP OMIM:610913 HPO NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14887
    Phenotypic abnormality 14884
      Abnormality of the respiratory system 2343
        Abnormal respiratory system morphology 1487
          Abnormal lung morphology 1275
            Abnormal pulmonary alveolar system morphology 4
              Abnormal alveolar type II pneumocyte morphology + 1
              Abnormal pulmonary alveolar system development + 1
              Alveolar septal thickening 0
              Diffuse alveolar damage 0
              Hyaline membranes 1
              Intraalveolar nodular calcifications 1
paths to the root