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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Lung Agenesis
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Accession:DOID:9000096 term browser browse the term
Synonyms:exact_synonym: Pulmonary agenesis;   Unilateral lobar pulmonary agenesis;   congenital lung agenesis;   primary pulmonary hypoplasia;   pulmonary hypoplasia;   unilateral lung agenesis
 narrow_synonym: experimental pulmonary hypoplasia
 primary_id: MESH:C562992
 alt_id: OMIM:265430

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Lung Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Pulmonary hypoplasia ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr17:27,855,688...27,869,427
Ensembl chr17:27,855,713...27,870,409 		JBrowse link
G EFNB2 ephrin B2 ISO CTD Direct Evidence: therapeutic CTD PMID:30106123 NCBI chr 3:84,904,421...84,949,292
Ensembl chr 3:84,904,435...84,949,465 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO mRNA,protein:decreased expression:lung epithelium: RGD PMID:24528972 RGD:8554873 NCBI chr 8:66,902,961...67,238,149
Ensembl chr 8:66,902,972...67,060,567 		JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Pulmonary hypoplasia ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr17:28,637,868...28,649,898 JBrowse link
G SIX1 SIX homeobox 1 ISO mRNA,protein:decreased expression:lung epithelium:
mRNA:decreased expression:lung (rat)		 RGD PMID:21385574 PMID:24528972 RGD:11561981 RGD:8554873 NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192 		JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypoplasia ClinVar NCBI chr16:32,677,878...32,715,169
Ensembl chr16:32,683,921...32,711,674 		JBrowse link
tetraamelia syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO2 R-spondin 2 ISO ClinVar Annotator: match by term: Tetraamelia syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29769720 NCBI chr 8:102,632,060...102,804,181
Ensembl chr 8:102,632,060...102,801,911 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    Developmental Disease 13266
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12383
        Congenital Abnormalities 7370
          Multiple Abnormalities 3589
            Lung Agenesis 7
              tetraamelia syndrome 2 1
paths to the root