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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 DEGLYCOSYLATION 2
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Accession:DOID:9001812 term browser browse the term
Definition:This disease is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis.
Synonyms:exact_synonym: CDDG2
 xref: MIM:619775;   MONDO:0030770


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CONGENITAL DISORDER OF DEGLYCOSYLATION 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man2c1 mannosidase, alpha, class 2C, member 1 ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 OMIM
ClinVar		 PMID:25741868 PMID:31865343 PMID:35045343 PMID:37486637 NCBI chr 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690 		JBrowse link
G Neil1 nei-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2 ClinVar PMID:25741868 PMID:35045343 NCBI chr 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Developmental Disease 14582
      Neurodevelopmental Disorders 6894
        intellectual disability 4375
          CONGENITAL DISORDER OF DEGLYCOSYLATION 2 2
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      nervous system disease 14221
        central nervous system disease 12556
          brain disease 11776
            disease of mental health 8368
              developmental disorder of mental health 5596
                specific developmental disorder 4595
                  intellectual disability 4375
                    CONGENITAL DISORDER OF DEGLYCOSYLATION 2 2
paths to the root