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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 Ia
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Accession:DOID:0080552 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)
Synonyms:exact_synonym: CDG Ia;   CDG1A;   CDGIa;   Carbohydrate-Deficient Glycoprotein Syndrome Type Ia;   Congenital Disorder of Glycosylation Type 1A;   Congenital Disorder of Glycosylation Type Ia;   Jaeken syndrome;   PMM2-congenital disorder of glycosylation;   carbohydrate-deficient glycoprotein syndrome type 1A;   congenital disorder of glycosylation 1a;   phosphomannomutase 2 deficiency
 primary_id: MESH:C535739
 alt_id: OMIM:212065;   RDO:0001027
 xref: GARD:9826;   NCI:C126868;   ORDO:79318
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A
ClinVar Annotator: match by OMIM:212065
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9140401 PMID:9497260 PMID:9710598 PMID:9781039 PMID:10066032 PMID:10386614 PMID:10527672 PMID:10571009 PMID:10571956 PMID:10602363 PMID:10801058 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11058896 PMID:11134235 PMID:11148191 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11589167 PMID:11715002 PMID:11875054 PMID:11891694 PMID:11916319 PMID:12297897 PMID:12357336 PMID:12529711 PMID:12607543 PMID:12626389 PMID:12705494 PMID:12905014 PMID:13129599 PMID:15272470 PMID:15277997 PMID:15520415 PMID:15645285 PMID:15714316 PMID:15844218 PMID:16085795 PMID:16376131 PMID:16435227 PMID:16540464 PMID:16825284 PMID:16941129 PMID:17158594 PMID:17166182 PMID:17186415 PMID:17307006 PMID:17308246 PMID:17920054 PMID:18093857 PMID:18203160 PMID:18485644 PMID:18571450 PMID:18629883 PMID:18948042 PMID:19101518 PMID:19165618 PMID:19168813 PMID:19235233 PMID:19357119 PMID:19396570 PMID:19862844 PMID:20301289 PMID:20638314 PMID:21228398 PMID:21539312 PMID:21541725 PMID:21937992 PMID:21949237 PMID:22012410 PMID:22223895 PMID:22649348 PMID:22801829 PMID:22814378 PMID:23045520 PMID:23430838 PMID:23430905 PMID:23430927 PMID:23806237 PMID:23988505 PMID:24033266 PMID:24037084 PMID:24139637 PMID:24498599 PMID:24739649 PMID:25167861 PMID:25326635 PMID:25355454 PMID:25497157 PMID:25525159 PMID:25681648 PMID:25741868 PMID:26014514 PMID:26206375 PMID:26488408 PMID:26502900 PMID:26629787 PMID:26805780 PMID:26887550 PMID:27053713 PMID:27415628 PMID:28122681 PMID:28139241 PMID:28373276 PMID:28425223 PMID:28454995 PMID:28492532 PMID:28566178 PMID:28807751 PMID:28820871 PMID:28915903 PMID:28940310 PMID:29361989 PMID:29470411 PMID:30061496 PMID:30687093 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type I 71
          congenital disorder of glycosylation Ia 7
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type I 71
                  congenital disorder of glycosylation Ia 7
paths to the root