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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 condition
 primary_id: MESH:C536015
 alt_id: OMIM:200600
 xref: GARD:459

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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 chrNW_004955438:16,005,570...16,041,668
Ensembl chrNW_004955438:16,005,570...16,042,115 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,405,415...14,443,457
Ensembl chrNW_004955438:14,405,643...14,440,009 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,345,678...15,445,705
Ensembl chrNW_004955438:15,351,688...15,445,704 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,842,437...12,854,028
Ensembl chrNW_004955438:12,842,437...12,854,028 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,822,642...13,978,777 JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,585,469...13,708,170 JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,092,267...15,104,321
Ensembl chrNW_004955438:15,092,394...15,104,381 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,449,320...14,483,003
Ensembl chrNW_004955438:14,452,943...14,483,199 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,100,345...16,116,377
Ensembl chrNW_004955438:16,100,594...16,114,657 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,440,883...13,554,969
Ensembl chrNW_004955438:13,489,999...13,545,523 		JBrowse link
G Fam181a family with sequence similarity 181 member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,992,016...16,001,584
Ensembl chrNW_004955438:15,995,256...16,001,584 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,073,927...14,144,644
Ensembl chrNW_004955438:14,071,410...14,145,070 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,992,710...15,031,297
Ensembl chrNW_004955438:14,992,710...15,035,136 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,319,033...15,321,648 JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,553,770...13,575,093
Ensembl chrNW_004955438:13,555,379...13,559,465 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,107,992...15,257,730
Ensembl chrNW_004955438:15,107,891...15,257,740 		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 chrNW_004955438:12,522,063...12,660,078
Ensembl chrNW_004955438:12,522,737...12,663,480 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,905,856...14,938,722
Ensembl chrNW_004955438:14,905,856...14,939,256 		JBrowse link
G LOC102005637 cytochrome c oxidase subunit 8C, mitochondrial ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,480,509...15,481,812 JBrowse link
G LOC102021597 alpha-1-antiproteinase S-like ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:17,920,200...17,929,105 JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,305,699...15,309,851 JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,443,558...14,449,754 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 chrNW_004955438:12,726,206...12,780,364
Ensembl chrNW_004955438:12,726,357...12,780,379 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,079,859...16,096,686
Ensembl chrNW_004955438:16,079,860...16,096,686 		JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,731,900...13,769,189
Ensembl chrNW_004955438:13,729,949...13,769,189 		JBrowse link
G Ppp4r4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,237,472...16,332,542
Ensembl chrNW_004955438:16,237,472...16,332,542 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,835,641...15,903,484 JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,705,328...12,721,050
Ensembl chrNW_004955438:12,704,691...12,721,050 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,777,866...14,898,572
Ensembl chrNW_004955438:14,778,262...14,898,747 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:13,218,451...13,392,080
Ensembl chrNW_004955438:13,217,222...13,392,674 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,335,201...16,345,093
Ensembl chrNW_004955438:16,335,544...16,345,094 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:16,356,600...16,380,861
Ensembl chrNW_004955438:16,356,540...16,380,872 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,609,779...14,765,516
Ensembl chrNW_004955438:14,609,424...14,759,673 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:14,012,199...14,047,174
Ensembl chrNW_004955438:14,000,322...14,047,415 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,421,790...12,510,243
Ensembl chrNW_004955438:12,421,005...12,511,493 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA OMIM
ClinVar		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955438:14,327,400...14,394,022
Ensembl chrNW_004955438:14,322,576...14,394,022 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:12,946,594...13,165,239
Ensembl chrNW_004955438:12,946,549...13,187,375 		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 chrNW_004955438:15,321,605...15,341,902
Ensembl chrNW_004955438:15,321,719...15,342,116 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chrNW_004955438:15,575,438...15,825,575
Ensembl chrNW_004955438:15,577,140...15,825,136 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      musculoskeletal system disease 7250
        bone disease 3596
          spinal disease 1011
            achondrogenesis type IA 39
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      Skin and Connective Tissue Diseases 6322
        connective tissue disease 4916
          bone disease 3596
            bone development disease 2149
              osteochondrodysplasia 827
                achondroplasia 51
                  achondrogenesis type IA 39
paths to the root