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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: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:31957011, PMID:32259258 RGD:39457703 NCBI chr15:10,405,453...10,455,973
Ensembl chr15:10,405,164...10,455,956
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        NGLY1-deficiency 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                NGLY1-deficiency 2
paths to the root