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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 glycosylation Iq
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Accession:DOID:0080568 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. (DO)
Synonyms:exact_synonym: CDG Iq;   CDG1Q;   CDGIq;   COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES;   Congenital Disorder of Glycosylation Type 1Q;   congenital disorder of glycosylation 1q;   congenital disorder of glycosylation, type Iq
 primary_id: OMIM:612379
 xref: GARD:12397;   ORDO:324737
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation Iq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20637498 PMID:20852264 PMID:22304929 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Iq 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Iq 1
paths to the root