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: Kyphoscoliosis
Accession: DOID:9004998
browse the term
Definition: A deformity of growth resulting in backward and lateral curvature of the spine.
Synonyms: exact_synonym: KYPSC1; kyphoscoliosis 1; kyphoscoliosis deformity of spine
primary_id: MESH:C565711
alt_id: OMIM:610170
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Hoxa11
homeobox A11
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
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Hoxc10
homeo box C10
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 7:134,103,741...134,108,966
Ensembl chr 7:134,103,643...134,108,966
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Hoxd10
homeo box D10
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Hoxd11
homeobox D11
IEP
mRNA:decreased expression:verterbra
RGD
PMID:18327665
RGD:11354896
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Aqp1
aquaporin 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Crhr2
corticotropin releasing hormone receptor 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Fkbp14
FKBP prolyl isomerase 14
ISO
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:31428121 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 More...
NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
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Ggct
gamma-glutamyl cyclotransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277
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Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
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Inmt
indolethylamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
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Mindy4
MINDY lysine 48 deubiquitinase 4
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395
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Mturn
maturin, neural progenitor differentiation regulator homolog
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950
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Nod1
nucleotide-binding oligomerization domain containing 1
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
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Plekha8
pleckstrin homology domain containing A8
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081
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Znrf2
zinc and ring finger 2
ISO
ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar
PMID:28492532
NCBI chr 4:83,950,406...84,032,676
Ensembl chr 4:83,949,309...84,027,818
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