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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 chr12:103,287,401...103,322,260
Ensembl chr12:103,287,401...103,322,260 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,747,056...102,844,733
Ensembl chr12:102,747,056...102,844,730 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,370,904...101,592,268
Ensembl chr12:101,370,912...101,592,268 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,865,565...102,866,793
Ensembl chr12:102,865,575...102,866,785 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,940,345...101,972,252
Ensembl chr12:101,942,247...101,972,683 		JBrowse link
G Ddx24 DEAD box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,374,235...103,392,106
Ensembl chr12:103,374,241...103,392,089 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,745,316...100,838,869
Ensembl chr12:100,745,316...100,863,240 		JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,277,272...103,283,326
Ensembl chr12:103,277,234...103,283,324 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,435,372...102,464,274
Ensembl chr12:102,435,394...102,464,166 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,400,448...103,406,504
Ensembl chr12:103,400,470...103,406,498 		JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,400,132...103,409,939
Ensembl chr12:103,408,426...103,409,939 		JBrowse link
G Itpk1 inositol 1,3,4-triphosphate 5/6 kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,534,842...102,671,128
Ensembl chr12:102,534,841...102,671,189 		JBrowse link
G Kcnk13 potassium channel, subfamily K, member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:99,928,132...100,028,941
Ensembl chr12:99,930,758...100,028,941 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,360,341...102,405,987
Ensembl chr12:102,360,343...102,406,072 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,709,978...102,714,551
Ensembl chr12:102,710,021...102,713,820 		JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,706,089...102,709,920
Ensembl chr12:102,708,489...102,709,920 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,934,355...101,941,997
Ensembl chr12:101,934,349...101,943,327 		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 chr12:100,091,709...100,126,981
Ensembl chr12:100,091,711...100,125,912 		JBrowse link
G Otub2 OTU domain, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,343,244...103,372,609
Ensembl chr12:103,354,941...103,372,609 		JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,005,668...101,051,721
Ensembl chr12:101,005,668...101,049,961 		JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,498,509...103,580,098
Ensembl chr12:103,498,542...103,580,090 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,160,712...103,208,967
Ensembl chr12:103,163,167...103,208,409 		JBrowse link
G Psmc1 protease (prosome, macropain) 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,076,461...100,089,623
Ensembl chr12:100,076,413...100,089,664 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,248,572...102,358,982
Ensembl chr12:102,249,307...102,357,114 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase, polypeptide 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,514,692...100,691,693
Ensembl chr12:100,514,698...100,693,242 		JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703 		JBrowse link
G Serpina1f serine (or cysteine) peptidase inhibitor, clade A, member 1F ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,654,303...103,661,788
Ensembl chr12:103,654,303...103,661,788 		JBrowse link
G Serpina6 serine (or cysteine) peptidase inhibitor, clade A, member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,612,889...103,623,477
Ensembl chr12:103,612,889...103,623,471 		JBrowse link
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,611,705...101,685,178
Ensembl chr12:101,611,702...101,684,782 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO
IAGP		 OMIM:200600
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Achondrogenesis, type IA		 OMIM
MouseDO
CTD
ClinVar		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,267,029...100,487,134
Ensembl chr12:100,267,029...100,487,085 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 (putative) ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,724,234...102,743,960
Ensembl chr12:102,724,226...102,743,966 		JBrowse link
G Unc79 unc-79 homolog ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,913,642...103,150,487
Ensembl chr12:102,915,118...103,150,324 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      musculoskeletal system disease 7936
        bone disease 3902
          spinal disease 1106
            achondrogenesis type IA 42
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      Skin and Connective Tissue Diseases 6948
        connective tissue disease 5397
          bone disease 3902
            bone development disease 2297
              osteochondrodysplasia 864
                achondroplasia 55
                  achondrogenesis type IA 42
paths to the root