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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:NGLY1-deficiency
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Accession:DOID:0060728 term browser browse the term
Definition:A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. (DO)
Synonyms:exact_synonym: CDDG;   CDG IV;   CDG1V;   CDGIV;   NGLY1-CDDG;   congenital disorder of deglycosylation;   congenital disorder of glycosylation 1V;   congenital disorder of glycosylation type Iv;   deficiency of N-glycanase 1
 primary_id: OMIM:615273
 xref: ICD10CM:E77.8;   NCI:C126746;   ORDO:404454
For additional species annotation, visit the Alliance of Genome Resources.


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NGLY1-deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 ISO
IMP
ClinVar Annotator: match by OMIM:615273
ClinVar Annotator: match by term: Congenital disorder of deglycosylation
ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv
OMIM
ClinVar
PMID:11562482, PMID:12711318, PMID:17088551, PMID:18414213, PMID:22581936, PMID:24088041, PMID:24651605, PMID:25220016, PMID:25356970, PMID:25741868, PMID:25900930, PMID:26350515, PMID:26633545, PMID:26795593, PMID:27388694, PMID:28330790, PMID:28492532, PMID:29419975, PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          carbohydrate metabolic disorder 393
            NGLY1-deficiency 2
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                NGLY1-deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.