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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
For additional species annotation, visit the Alliance of Genome Resources.



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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:25058219 PMID:25705216 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:25058219 PMID:25705216 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 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Multiple Abnormalities 3115
            Lung Agenesis 10
              tetraamelia syndrome 2 1
paths to the root