Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Kyphosis
go back to main search page
Accession:DOID:9003358 term browser browse the term
Definition:Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Synonyms:exact_synonym: Kyphoses
 primary_id: MESH:D007738;   RDO:0001071
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Kyphosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Kahrizi syndrome
ClinVar Annotator: match by OMIM:612713
OMIM
ClinVar
PMID:18781183 PMID:20700148 PMID:20852264 PMID:22304929 PMID:25326635 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
JBrowse link
G Hoxc10 homeo box C10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 7:134,103,741...134,108,966
Ensembl chr 7:134,103,643...134,108,966
JBrowse link
G Hoxd10 homeo box D10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
JBrowse link
G Hoxd11 homeobox D11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,584,840...59,587,257 JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Parastremmatic dwarfism OMIM
ClinVar
PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
Scheuermann's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member B ISS OMIM:181440 MouseDO NCBI chr 8:122,810,091...122,817,039
Ensembl chr 8:122,810,149...122,815,835
JBrowse link
G Nfix nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        bone disease 3115
          spinal disease 926
            Spinal Curvatures 56
              Kyphosis 15
                Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                Coffin Syndrome 1 0
                Daish Hardman Lamont Syndrome 0
                Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                Kahrizi syndrome 1
                Kyphoscoliosis + 5
                McDonough Syndrome 0
                Scheuermann's disease 2
                Vertebral Hypoplasia with Lumbar Kyphosis 0
                parastremmatic dwarfism 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        connective tissue disease 4432
          bone disease 3115
            spinal disease 926
              bone structure disease 85
                Spinal Curvatures 56
                  Kyphosis 15
                    Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 0
                    Cervical Hypertrichosis with Underlying Kyphoscoliosis 0
                    Coffin Syndrome 1 0
                    Daish Hardman Lamont Syndrome 0
                    Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                    Kahrizi syndrome 1
                    Kyphoscoliosis + 5
                    McDonough Syndrome 0
                    Scheuermann's disease 2
                    Vertebral Hypoplasia with Lumbar Kyphosis 0
                    parastremmatic dwarfism 1
paths to the root