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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:achondrogenesis type IA
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Accession:DOID:0080054 term browser browse the term
Definition:An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. (DO)
Synonyms:exact_synonym: ACG1A;   Achondrogenesis, Houston-Harris type;   Houston-Harris achondrogenesis;   achondrogenesis type 1A
 broad_synonym: TRIP11-RELATED SKELETAL DYSPLASIA;   TRIP11-related condition
 primary_id: MESH:C536015
 alt_id: MIM:200600
 xref: GARD:459


show annotations for term's descendants           Sort by:
achondrogenesis type IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box-containing 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,239,550...128,275,833
Ensembl chr 6:128,239,552...128,266,321 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,837,107...126,872,919
Ensembl chr 6:126,839,327...126,872,781 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,685,185...127,774,947
Ensembl chr 6:127,688,421...127,737,222 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,217,191...125,227,855
Ensembl chr 6:125,217,246...125,225,381 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,148,156...126,526,814
Ensembl chr 6:126,147,645...126,472,079 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,899,337...126,019,162
Ensembl chr 6:125,899,526...126,018,865 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,460,895...127,472,238
Ensembl chr 6:127,460,854...127,472,237 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,793,379...127,794,702
Ensembl chr 6:127,793,379...127,794,702 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,123,941...121,152,756
Ensembl chr 6:126,885,476...126,917,632 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,329,554...128,346,818
Ensembl chr 6:128,329,554...128,349,625 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,785,075...125,860,496
Ensembl chr 6:125,785,087...125,860,496 		JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,230,171...128,236,193
Ensembl chr 6:128,232,240...128,236,625 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:126,664,100...126,746,296 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,377,244...127,405,404
Ensembl chr 6:127,377,236...127,405,403 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,647,389...127,663,276 JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,865,205...125,895,674
Ensembl chr 6:125,864,942...125,895,674 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,355,312...128,361,783
Ensembl chr 6:128,355,079...128,361,781 		JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,363,658...128,365,144
Ensembl chr 6:128,363,658...128,365,146 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,475,589...127,609,320
Ensembl chr 6:127,476,808...127,609,062 		JBrowse link
G Kcnk13 potassium two pore domain channel subfamily K member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:124,970,363...125,074,919
Ensembl chr 6:124,971,212...125,075,923 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,308,913...127,347,355
Ensembl chr 6:127,308,913...127,347,328 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,649,401...127,651,143
Ensembl chr 6:127,649,450...127,652,661 		JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,647,389...127,649,324
Ensembl chr 6:127,613,488...127,669,324 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,115,649...121,124,055
Ensembl chr 6:126,880,537...126,888,864 		JBrowse link
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,137,121...125,177,689
Ensembl chr 6:125,136,635...125,198,616 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,309,863...128,328,444
Ensembl chr 6:128,299,693...128,328,433 		JBrowse link
G Ppp4r3a protein phosphatase 4, regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,032,068...126,098,329
Ensembl chr 6:126,032,068...126,095,543 		JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,427,884...128,518,776
Ensembl chr 6:128,427,893...128,528,039 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,094,686...128,155,592
Ensembl chr 6:128,103,175...128,154,865 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,122,497...125,134,859
Ensembl chr 6:125,122,490...125,134,858 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,196,648...127,305,821
Ensembl chr 6:127,196,632...127,305,821 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:125,558,434...125,736,576
Ensembl chr 6:125,558,434...125,735,856 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:128,619,382...128,660,703 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,520,894...128,529,332
Ensembl chr 6:128,520,896...128,529,332 		JBrowse link
G Serpina1f serpin family A member 1F ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,585,697...128,591,902
Ensembl chr 6:128,585,697...128,591,902 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:128,544,828...128,555,064
Ensembl chr 6:128,544,831...128,555,139 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,044,470...127,184,684
Ensembl chr 6:127,044,470...127,184,684 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:126,526,006...126,622,163
Ensembl chr 6:126,526,009...126,614,215 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:124,881,574...124,960,642 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:200600
ClinVar Annotator: match by term: Achondrogenesis, type IA 		OMIM
CTD
MouseDO
ClinVar		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:126,760,263...126,832,619
Ensembl chr 6:126,760,265...126,832,570 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,587,389...119,799,167
Ensembl chr 6:125,316,789...125,528,779 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,663,454...127,683,302
Ensembl chr 6:127,663,447...127,694,390 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:127,841,671...128,092,380
Ensembl chr 6:127,848,074...128,092,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        bone disease 4398
          spinal disease 1079
            achondrogenesis type IA 43
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                achondroplasia 57
                  achondrogenesis type IA 43
paths to the root