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
Accession: DOID:0080043
browse the term
Definition: An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)
Synonyms: exact_synonym: achondrogenesis syndrome
primary_id: MESH:C579878
xref: GARD:2882 ; OMIM:PS200600
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: Achondrogenesis
ClinVar
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Trip11
thyroid hormone receptor interactor 11
ISO
ClinVar Annotator: match by term: Achondrogenesis
ClinVar
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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Asb2
ankyrin repeat and SOCS box-containing 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854
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Atxn3
ataxin 3
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902
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Btbd7
BTB domain containing 7
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405
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Calm1
calmodulin 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227
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Catsperb
cation channel sperm associated auxiliary subunit beta
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,418,606...120,713,160
Ensembl chr 6:120,418,609...120,707,182
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Ccdc88c
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555
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Chga
chromogranin A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398
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Cox8c
cytochrome c oxidase subunit 8C
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
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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 6:121,120,569...121,151,921
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Ddx24
DEAD-box helicase 24
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927
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Dglucy
D-glutamate cyclase
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,055,480...120,130,910
Ensembl chr 6:120,055,460...120,130,910
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Fam181a
family with sequence similarity 181, member A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397
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Fbln5
fibulin 5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
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Golga5
golgin A5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,612,389...121,640,552
Ensembl chr 6:121,612,529...121,640,413
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Gon7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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Gpr68
G protein-coupled receptor 68
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089
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Ifi27
interferon, alpha-inducible protein 27
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294
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Ifi27l2b
interferon, alpha-inducible protein 27 like 2B
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360
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Itpk1
inositol-tetrakisphosphate 1-kinase
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,710,750...121,844,501
Ensembl chr 6:121,710,755...121,844,107
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Kcnk13
potassium two pore domain channel subfamily K member 13
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,240,825...119,345,292
Ensembl chr 6:119,242,188...119,345,240
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Lgmn
legumain
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480
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Lyset
lysosomal enzyme trafficking factor
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,884,577...121,886,319
Ensembl chr 6:121,884,643...121,886,275
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Moap1
modulator of apoptosis 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,882,565...121,884,500
Ensembl chr 6:121,882,366...121,898,643
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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
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Nrde2
NRDE-2, necessary for RNA interference, domain containing
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,405,103...119,446,861
Ensembl chr 6:119,404,334...119,448,915
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Otub2
OTU deubiquitinase, ubiquitin aldehyde binding 2
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644
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Ppp4r3a
protein phosphatase 4, regulatory subunit 3A
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,302,508...120,365,907
Ensembl chr 6:120,302,511...120,365,891
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Ppp4r4
protein phosphatase 4, regulatory subunit 4
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384
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Prima1
proline rich membrane anchor 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921
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Psmc1
proteasome 26S subunit, ATPase 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,392,833...119,405,233
Ensembl chr 6:119,392,855...119,410,123
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Rin3
Ras and Rab interactor 3
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957
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Rps6ka5
ribosomal protein S6 kinase A5
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,828,823...120,006,190
Ensembl chr 6:119,828,846...120,006,224
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
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Serpina1f
serpin family A member 1F
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112
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Serpina6
serpin family A member 6
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349
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Slc24a4
solute carrier family 24 member 4
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949
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Tc2n
tandem C2 domains, nuclear
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:120,761,112...120,856,835
Ensembl chr 6:120,761,119...120,849,326
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Tdp1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
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Trip11
thyroid hormone receptor interactor 11
ISO ISS
ClinVar Annotator: match by term: Achondrogenesis, type IA OMIM:200600 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20089971 PMID:20307669 PMID:22406018 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30609409 PMID:30728324 PMID:31903676 PMID:33578785 PMID:34057271 More...
NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781
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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 6:119,587,390...119,799,330
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Ubr7
ubiquitin protein ligase E3 component n-recognin 7
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477
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Unc79
unc-79 homolog, NALCN channel complex subunit
ISO
ClinVar Annotator: match by term: Achondrogenesis, type IA
ClinVar
PMID:28492532
NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
OMIM ClinVar CTD RGD
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:9536098 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:17576681 PMID:18708426 PMID:18925670 PMID:19344236 PMID:19763152 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20307669 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:22406018 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26077908 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:30462520 PMID:31880411 PMID:32295296 PMID:34064542 PMID:34094714 PMID:34627339 PMID:34958143 PMID:8528239 More...
RGD:11068488
NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Col2a1
collagen type II alpha 1 chain
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:200610 ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta
OMIM CTD MouseDO ClinVar
PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 PMID:8218237 PMID:8244341 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098 PMID:10612821 PMID:10797431 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17726487 PMID:17994563 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:24736929 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26747767 PMID:27234559 PMID:27390512 PMID:28492532 PMID:28559085 PMID:28738883 PMID:29453956 PMID:29620724 PMID:30138938 PMID:30181686 PMID:30792901 PMID:31755234 PMID:32071555 PMID:32756486 PMID:33249554 PMID:34394176 PMID:34529350 PMID:34573377 More...
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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