Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Breathing dysregulation
go back to main search page
Accession:HP:0005957 term browser browse the term
Synonyms:xref: UMLS:C3808046


show annotations for term's descendants           Sort by:
Breathing dysregulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTC1 actin alpha cardiac muscle 1 IAGP HPO ORPHA:99103 NCBI chr15:34,790,230...34,795,549
Ensembl chr15:34,790,107...34,795,589 		JBrowse link
G ASCL1 achaete-scute family bHLH transcription factor 1 IAGP HPO ORPHA:99803 NCBI chr12:102,957,674...102,960,513
Ensembl chr12:102,957,674...102,960,513 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 IAGP HPO ORPHA:99103 NCBI chr 6:139,371,807...139,374,648
Ensembl chr 6:139,371,807...139,374,648 		JBrowse link
G GATA4 GATA binding protein 4 IAGP HPO ORPHA:99103 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO ORPHA:99103 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GLDN gliomedin IAGP ClinVar Annotator: match by term: Breathing dysregulation ClinVar PMID:25741868 PMID:28726266 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005 		JBrowse link
G KYNU kynureninase IAGP HPO ORPHA:79155 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833 		JBrowse link
G MYH6 myosin heavy chain 6 IAGP HPO ORPHA:99103 NCBI chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO OMIM:618232 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:99103 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:99803 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:99803 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G TBX20 T-box transcription factor 20 IAGP HPO ORPHA:99103 NCBI chr 7:35,202,430...35,254,100
Ensembl chr 7:35,202,430...35,254,100 		JBrowse link
G TLL1 tolloid like 1 IAGP HPO ORPHA:99103 NCBI chr 4:165,873,237...166,104,457
Ensembl chr 4:165,873,237...166,104,457 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Decreased sensitivity to hypoxemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO OMIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
Neonatal breathing dysregulation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO OMIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:611560 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the respiratory system 2496
        Abnormal respiratory system physiology 2486
          Breathing dysregulation 21
            Decreased sensitivity to hypoxemia 1
            Neonatal breathing dysregulation 5
paths to the root