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 Iu
Accession: DOID:0080571
browse the term
Definition: A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)
Synonyms: exact_synonym: CDG IU; CDG1U; CDGIU; Congenital Disorder of Glycosylation Type 1U; Congenital Disorder of Glycosylation, Type Iu; congenital disorder of glycosylation 1u
primary_id: OMIM:615042
alt_id: RDO:9000250
xref: GARD:12416 ; ORDO:329178
For additional species annotation, visit the
Alliance of Genome Resources .
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Ak1
adenylate kinase 1
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,652,143...11,659,135
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Cdk9
cyclin-dependent kinase 9
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,742,269...11,747,117
Ensembl chr 3:11,742,266...11,747,113
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Cfap157
cilia and flagella associated protein 157
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,813,575...11,820,549
Ensembl chr 3:11,813,575...11,820,549
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Ciz1
CDKN1A interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,392,046...11,409,218
Ensembl chr 3:11,392,791...11,410,180
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Dpm2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u ClinVar Annotator: match by OMIM:615042
OMIM ClinVar
PMID:18414213 PMID:19901254 PMID:23109149 PMID:25741868 PMID:28492532
NCBI chr 3:11,587,941...11,590,528
Ensembl chr 3:11,587,941...11,590,528
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Fam102a
family with sequence similarity 102, member A
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,554,084...11,586,315
Ensembl chr 3:11,554,457...11,586,303
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Fpgs
folylpolyglutamate synthase
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,717,667...11,729,694
Ensembl chr 3:11,717,667...11,723,327
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Lcn2
lipocalin 2
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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Lrsam1
leucine rich repeat and sterile alpha motif containing 1
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,970,401...12,009,463
Ensembl chr 3:11,972,813...12,007,570
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Naif1
nuclear apoptosis inducing factor 1
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,476,330...11,482,629
Ensembl chr 3:11,476,883...11,481,744
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Niban2
niban apoptosis regulator 2
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,921,715...11,971,327
Ensembl chr 3:11,921,715...11,971,327
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Pip5kl1
phosphatidylinositol-4-phosphate 5-kinase-like 1
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,592,156...11,597,513
Ensembl chr 3:11,593,655...11,597,410
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Ptges2
prostaglandin E synthase 2
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,424,195...11,431,379
Ensembl chr 3:11,424,099...11,431,402
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Ptrh1
peptidyl-tRNA hydrolase 1 homolog
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,811,303...11,817,007
Ensembl chr 3:11,811,962...11,825,640
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RGD1561113
similar to Hypothetical UPF0184 protein C9orf16 homolog
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,408,076...11,410,907
Ensembl chr 3:11,408,348...11,410,732
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Sh2d3c
SH2 domain containing 3C
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,756,427...11,793,547
Ensembl chr 3:11,756,384...11,793,593
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Slc25a25
solute carrier family 25 member 25
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
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St6galnac4
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,607,103...11,619,595
Ensembl chr 3:11,607,225...11,619,593
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St6galnac6
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,620,050...11,641,460
Ensembl chr 3:11,629,556...11,641,466
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
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Tor2a
torsin family 2, member A
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,794,731...11,800,261
Ensembl chr 3:11,795,629...11,799,693
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Ttc16
tetratricopeptide repeat domain 16
ISO
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
ClinVar
PMID:28492532
NCBI chr 3:11,799,788...11,811,600
Ensembl chr 3:11,799,612...11,810,901
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