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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;   CDDG1;   NGLY1-CDDG;   NGLY1-RELATED CONDITION;   congenital disorder of deglycosylation;   congenital disorder of deglycosylation 1;   deficiency of N-glycanase 1
 related_synonym: CDG IV;   CDG1V;   CDGIV;   congenital disorder of glycosylation 1V;   congenital disorder of glycosylation type Iv
 primary_id: MESH:C000626124
 alt_id: OMIM:615273
 xref: ICD10CM:E77.8;   NCI:C126746;   ORDO:404454


show annotations for term's descendants           Sort by:
NGLY1-deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 ISO
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital disorder of deglycosylation | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 1 | ClinVar Annotator: match by term: NGLY1-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22581936 More... RGD:39457703 NCBI chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Ngly1em1Ta N-glycanase 1; CRISPR/Cas9 induced mutant 1, Ta IMP compared to Wild type RGD PMID:32259258 RGD:39457703
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation ClinVar PMID:24651605 PMID:28492532 NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288 		JBrowse link
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation ClinVar PMID:24651605 PMID:28492532 NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        NGLY1-deficiency 5
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                NGLY1-deficiency 5
paths to the root