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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:neonatal respiratory failure
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Accession:DOID:11161 term browser browse the term
Definition:A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. (DO)
Synonyms:exact_synonym: respiratory failure of newborn
 xref: ICD10CM:P28.5;   ICD9CM:770.84
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
congenital myopathy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr 2:18,051,708...18,063,108
Ensembl chr 2:18,061,492...18,062,971 		JBrowse link
G P TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr17:48,025,621...48,026,762
Ensembl chr17:48,024,687...48,028,651 		JBrowse link
G S Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chrNW_004936514:7,196,576...7,199,603
Ensembl chrNW_004936514:7,196,536...7,199,649 		JBrowse link
G D TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr24:33,136,644...33,139,289
Ensembl chr24:33,128,290...33,163,050 		JBrowse link
G B TNNC2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr20:42,162,502...42,172,829
Ensembl chr20:43,249,725...43,254,134 		JBrowse link
G C Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chrNW_004955445:11,466,579...11,469,123
Ensembl chrNW_004955445:11,466,579...11,469,123 		JBrowse link
G R Tnnc2 troponin C2, fast skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr 3:153,513,272...153,516,033
Ensembl chr 3:153,513,271...153,516,029 		JBrowse link
G M Tnnc2 troponin C2, fast ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887 		JBrowse link
G H TNNC2 troponin C2, fast skeletal type IAGP ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr20:45,823,214...45,833,306
Ensembl chr20:45,823,214...45,833,745 		JBrowse link
developmental and epileptic encephalopathy 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gls glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chrNW_004624854:5,106,419...5,202,445
Ensembl chrNW_004624854:5,108,566...5,202,240 		JBrowse link
G G GLS glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr10:76,402,201...76,489,063
Ensembl chr10:76,402,195...76,486,498 		JBrowse link
G P GLS glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr15:95,513,414...95,606,029
Ensembl chr15:95,513,446...95,598,311 		JBrowse link
G S Gls glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chrNW_004936506:7,237,099...7,314,011
Ensembl chrNW_004936506:7,237,099...7,313,976 		JBrowse link
G D GLS glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr37:1,433,640...1,508,347
Ensembl chr37:1,433,398...1,508,146 		JBrowse link
G B GLS glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323 		JBrowse link
G C Gls glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chrNW_004955403:8,195,241...8,261,402
Ensembl chrNW_004955403:8,195,255...8,261,402 		JBrowse link
G R Gls glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
G M Gls glutaminase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr 1:52,202,608...52,274,168
Ensembl chr 1:52,202,607...52,272,391 		JBrowse link
G H GLS glutaminase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chrNW_004624838:1,040,108...1,269,000
Ensembl chrNW_004624838:1,040,525...1,258,151 		JBrowse link
G G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622 		JBrowse link
G P RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694 		JBrowse link
G S Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chrNW_004936494:9,649,444...9,866,942
Ensembl chrNW_004936494:9,659,285...9,866,408 		JBrowse link
G D RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998 		JBrowse link
G B RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430 		JBrowse link
G C Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657 		JBrowse link
G R Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr 6:72,977,432...73,252,378
Ensembl chr 6:72,977,432...73,252,378 		JBrowse link
G M Ralgapa1 Ral GTPase activating protein, alpha subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952 		JBrowse link
G H RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:32004447 NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 199753
    disease of anatomical entity 168001
      respiratory system disease 33960
        Respiration Disorders 4595
          respiratory failure 3668
            neonatal respiratory failure 29
              NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION 10
              congenital myopathy 15 9
              developmental and epileptic encephalopathy 71 10
Path 2
Term Annotations click to browse term
  disease 199753
    disease of anatomical entity 168001
      respiratory system disease 33960
        lower respiratory tract disease 21734
          lung disease 21358
            respiratory failure 3668
              neonatal respiratory failure 29
                NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION 10
                congenital myopathy 15 9
                developmental and epileptic encephalopathy 71 10
paths to the root