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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


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 7:115,210,885...115,258,863
Ensembl chr 7:115,208,700...115,258,654 		JBrowse link
G ATXN3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,611,566...113,645,835
Ensembl chr 7:113,608,783...113,645,841 		JBrowse link
G BTBD7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,617,489...114,707,056
Ensembl chr 7:114,617,508...114,707,095 		JBrowse link
G CALM1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,160,823...112,171,754
Ensembl chr 7:112,160,806...112,171,744 		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 7:113,201,785...113,293,597
Ensembl chr 7:113,201,004...113,297,405 		JBrowse link
G CCDC88C coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,534...113,045,682 		JBrowse link
G CHGA chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,345,542...114,357,799
Ensembl chr 7:114,345,305...114,358,075 		JBrowse link
G CPSF2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,659,903...113,690,524
Ensembl chr 7:113,659,905...113,693,764 		JBrowse link
G DDX24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,328,122...115,347,355
Ensembl chr 7:115,328,121...115,352,929 		JBrowse link
G DGLUCY D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,753,719...112,862,247 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 7:115,204,147...115,208,845 JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198 		JBrowse link
G GOLGA5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,237,059...114,273,916
Ensembl chr 7:114,237,145...114,273,915 		JBrowse link
G GON7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787 		JBrowse link
G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,885,160...112,904,214
Ensembl chr 7:112,885,163...112,904,246 		JBrowse link
G ISG12(A) putative ISG12(a) protein ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,356,619...115,361,537
Ensembl chr 7:115,356,517...115,361,538 		JBrowse link
G ITPK1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,361,976...114,520,805
Ensembl chr 7:114,361,968...114,520,793 		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 7:111,866,471...111,981,304
Ensembl chr 7:111,867,546...111,980,663 		JBrowse link
G LGMN legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,176,217...114,210,096
Ensembl chr 7:114,173,693...114,217,102 		JBrowse link
G LOC100152306 interferon alpha-inducible protein 27-like protein 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,363,649...115,370,861 JBrowse link
G LOC100157935 cytochrome c oxidase subunit 8C, mitochondrial ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,727,841...114,729,102 JBrowse link
G LYSET lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,574,393...114,575,887
Ensembl chr 7:114,574,139...114,575,883 		JBrowse link
G MOAP1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,571,624...114,574,052 JBrowse link
G NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,652,772...113,659,937
Ensembl chr 7:113,652,776...113,659,672 		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 7:112,039,949...112,090,632
Ensembl chr 7:112,038,234...112,090,510 		JBrowse link
G OTUB2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,304,809...115,326,055
Ensembl chr 7:115,304,871...115,327,054 		JBrowse link
G PPP4R3A protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,111,305...113,148,988
Ensembl chr 7:113,111,332...113,148,954 		JBrowse link
G PPP4R4 protein phosphatase 4 regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,412,457...115,523,232
Ensembl chr 7:115,412,449...115,522,686 		JBrowse link
G PRIMA1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,038,626...115,101,431
Ensembl chr 7:115,038,630...115,100,756 		JBrowse link
G PSMC1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,027,904...112,041,360
Ensembl chr 7:112,027,921...112,041,489 		JBrowse link
G RIN3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:114,035,137...114,166,548
Ensembl chr 7:114,035,353...114,166,539 		JBrowse link
G RPS6KA5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,561,985...112,753,666
Ensembl chr 7:112,561,988...112,753,564 		JBrowse link
G SERPINA1 serpin family A member 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,583,043...115,614,645 		JBrowse link
G SERPINA6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:115,535,552...115,554,536
Ensembl chr 7:115,535,697...115,554,570 		JBrowse link
G SLC24A4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,836,207...114,014,952
Ensembl chr 7:113,836,230...114,014,949 		JBrowse link
G TC2N tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:113,337,815...113,389,663
Ensembl chr 7:113,337,035...113,389,588 		JBrowse link
G TDP1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,249 		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 chr 7:113,524,406...113,600,411
Ensembl chr 7:113,524,430...113,600,088 		JBrowse link
G TTC7B tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 7:112,270,161...112,519,123
Ensembl chr 7:112,270,164...112,519,191 		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 7:114,590,920...114,609,867
Ensembl chr 7:114,590,945...114,609,858 		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 7:114,766,273...115,028,344
Ensembl chr 7:114,766,489...115,027,711 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        bone disease 3783
          spinal disease 1062
            achondrogenesis type IA 41
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Skin and Connective Tissue Diseases 6721
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              osteochondrodysplasia 851
                achondroplasia 54
                  achondrogenesis type IA 41
paths to the root