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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
 primary_id: OMIM:619775
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:35045343 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: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 18109
    Developmental Disease 12858
      Neurodevelopmental Disorders 6142
        intellectual disability 3939
          CONGENITAL DISORDER OF DEGLYCOSYLATION 2 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              developmental disorder of mental health 4860
                specific developmental disorder 4124
                  intellectual disability 3939
                    CONGENITAL DISORDER OF DEGLYCOSYLATION 2 2
paths to the root