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:Concave nasal ridge
go back to main search page
Accession:HP:0011120 term browser browse the term
Definition:Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Comment:A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum.
Synonyms:exact_synonym: Boxer's nasal deformity;   Boxer's nose deformity;   Concave dorsum of nose;   Concave nasal dorsum;   Saddle nose;   Saddle shaped nasal dorsum;   Ski jump nose
 related_synonym: SADDLE NOSE DEFORMITY
 xref: SNOMEDCT_US:710234009;   UMLS:C0264169


show annotations for term's descendants           Sort by:
Concave nasal ridge term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO OMIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G CANT1 calcium activated nucleotidase 1 IAGP HPO OMIM:251450 NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO OMIM:618663 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G EXOSC2 exosome component 2 IAGP HPO OMIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO OMIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FOXC1 forkhead box C1 IAGP HPO OMIM:602482 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G IGF1 insulin like growth factor 1 IAGP HPO ORPHA:73272 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO OMIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP HPO OMIM:617337 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468 		JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO OMIM:612132 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749 		JBrowse link
G PEPD peptidase D IAGP HPO OMIM:170100 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO OMIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SOST sclerostin IAGP HPO OMIM:122860 NCBI chr17:43,753,738...43,758,791
Ensembl chr17:43,753,738...43,758,791 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO OMIM:245590 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21564
    Phenotypic abnormality 21554
      Abnormality of head or neck 3583
        Abnormality of the head 3554
          Abnormality of the face 3145
            Abnormality of the nose 1764
              Abnormal nasal morphology 1504
                Abnormal external nose morphology 903
                  Abnormal nasal dorsum morphology 254
                    Concave nasal ridge 22
paths to the root