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: congenital disorder of glycosylation type IIc
Accession: DOID:0070255
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Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2. (DO)
Comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases.
Synonyms: exact_synonym: CDG IIc; CDG2C; CDGIIc; RHS; Rambam Hasharon syndrome; congenital disorder of glycosylation type 2C
primary_id: MESH:C535755
alt_id: OMIM:266265
xref: GARD:4634 ; NCI:C4690 ; ORDO:99843
For additional species annotation, visit the
Alliance of Genome Resources .
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Acp2
acid phosphatase 2, lysosomal
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
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Agbl2
AGBL carboxypeptidase 2
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,764,893...76,800,071
Ensembl chr 3:76,764,238...76,800,214
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Ambra1
autophagy and beclin 1 regulator 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,700,936...77,890,221
Ensembl chr 3:77,700,936...77,890,221
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Arfgap2
ADP-ribosylation factor GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
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Arhgap1
Rho GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,621,377...77,643,400
Ensembl chr 3:77,620,655...77,643,396
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Atg13
autophagy related 13
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,647,069...77,681,028
Ensembl chr 3:77,645,790...77,681,043
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C1qtnf4
C1q and TNF related 4
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,854,368...76,872,991
Ensembl chr 3:76,857,735...76,874,139
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Celf1
CUGBP, Elav-like family member 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,924,591...76,999,429
Ensembl chr 3:76,924,613...76,999,426
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Chrm4
cholinergic receptor, muscarinic 4
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159
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Ckap5
cytoskeleton associated protein 5
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264
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Creb3l1
cAMP responsive element binding protein 3-like 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
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Cry2
cryptochrome circadian regulator 2
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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Cstpp1
centriolar satellite-associated tubulin polyglutamylase complex regulator 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
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Ddb2
damage specific DNA binding protein 2
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
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Dgkz
diacylglycerol kinase zeta
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,904,149...77,946,114
Ensembl chr 3:77,904,150...77,946,099
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F2
coagulation factor II
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fam180b
family with sequence similarity 180 member B
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
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Fnbp4
formin binding protein 4
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,733,012...76,763,077
Ensembl chr 3:76,733,027...76,763,079
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Harbi1
harbinger transposase derived 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,681,431...77,689,749
Ensembl chr 3:77,681,431...77,689,724
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Kbtbd4
kelch repeat and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,883,671...76,890,799
Ensembl chr 3:76,883,014...76,890,799
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Large2
LARGE xylosyl- and glucuronyltransferase 2
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:78,334,627...78,347,167
Ensembl chr 3:78,336,056...78,342,184
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Lrp4
LDL receptor related protein 4
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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Madd
MAP-kinase activating death domain
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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Mapk8ip1
mitogen-activated protein kinase 8 interacting protein 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:78,355,051...78,372,946
Ensembl chr 3:78,355,048...78,372,884
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Mdk
midkine
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,901,156...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Mtch2
mitochondrial carrier 2
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,830,549...76,850,189
Ensembl chr 3:76,830,413...76,850,189
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Ndufs3
NADH:ubiquinone oxidoreductase core subunit S3
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Nup160
nucleoporin 160
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
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Pacsin3
protein kinase C and casein kinase substrate in neurons 3
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
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Pex16
peroxisomal biogenesis factor 16
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:78,347,212...78,352,603
Ensembl chr 3:78,343,164...78,353,207
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Phf21a
PHD finger protein 21A
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:78,158,760...78,331,903
Ensembl chr 3:78,194,549...78,331,865
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Psmc3
proteasome 26S subunit, ATPase 3
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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Ptpmt1
protein tyrosine phosphatase, mitochondrial 1
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:76,889,922...76,899,427
Ensembl chr 3:76,889,922...76,899,427
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
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RGD1563263
similar to RIKEN cDNA 1700029I15
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:78,354,303...78,355,055
Ensembl chr 3:78,354,303...78,355,055
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Slc35c1
solute carrier family 35 member C1
ISO
DNA:missense mutations:cds:p.R147C, p.T308R (human) ClinVar Annotator: match by term: CDG IIc | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome
OMIM ClinVar RGD
PMID:1279426 PMID:11213799 PMID:11326279 PMID:11326280 PMID:12116250 PMID:16455955 PMID:23806237 PMID:24033266 PMID:24403049 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29030401 PMID:32313197 PMID:33098347 PMID:33413482 PMID:11326280 More...
RGD:1599002
NCBI chr 3:78,421,925...78,429,603
Ensembl chr 3:78,421,933...78,428,520
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Slc39a13
solute carrier family 39 member 13
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,039,411...77,047,536
Ensembl chr 3:77,037,565...77,049,226
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Spi1
Spi-1 proto-oncogene
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Znf408
zinc finger protein 408
ISO
ClinVar Annotator: match by term: Rambam Hasharon syndrome
ClinVar
PMID:28492532
NCBI chr 3:77,615,595...77,621,325
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