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
Accession: DOID:0080054
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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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
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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
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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
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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
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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 chr12:101,370,904...101,592,268
Ensembl chr12:101,370,912...101,592,268
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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
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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
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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
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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
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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
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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
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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 chr12:103,277,272...103,283,326
Ensembl chr12:103,277,234...103,283,324
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 chr12:100,091,709...100,126,981
Ensembl chr12:100,091,711...100,125,912
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 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 chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526
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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
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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
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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
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