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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 chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Efnb2 ephrin B2 ISO CTD Direct Evidence: therapeutic CTD PMID:30106123 NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 IEP mRNA,protein:decreased expression:lung epithelium: RGD PMID:24528972 RGD:8554873 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Mir200a microRNA 200a ISO CTD Direct Evidence: marker/mechanism CTD PMID:33048239 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:33048239 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mir429 microRNA 429 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33048239 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		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 chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Six1 SIX homeobox 1 IEP
ISO		 mRNA,protein:decreased expression:lung epithelium:
mRNA:decreased expression:lung (rat)		 RGD PMID:24528972 PMID:21385574 PMID:24528972 RGD:8554873, RGD:11561981, RGD:8554873 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Primary pulmonary hypoplasia ClinVar NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825 		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 7:74,096,378...74,239,398
Ensembl chr 7:74,103,090...74,238,933 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        Congenital Abnormalities 7569
          Multiple Abnormalities 3680
            Lung Agenesis 10
              tetraamelia syndrome 2 1
paths to the root