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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:Bilateral lung agenesis
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Accession:HP:0005944 term browser browse the term
Definition:Bilateral lack of development of the lungs.
Synonyms:exact_synonym: Absent lungs;   Bilateral pulmonary agenesis
 alt_id: HP:0006550
 xref: Fyler:4206;   UMLS:C4021610


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Bilateral lung agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO2 R-spondin 2 IAGP HPO OMIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 IAGP HPO OMIM:601186 NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO OMIM:611812 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the respiratory system 2475
        Abnormal respiratory system physiology 2465
          Abnormal respiratory system morphology 1618
            Abnormal lung morphology 1387
              Abnormal lung development 246
                Aplasia/Hypoplasia of the lungs 163
                  Bilateral lung agenesis 4
paths to the root