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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 OMIM:612379
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q
OMIM
ClinVar
PMID:20637498 PMID:20852264 PMID:22304929 PMID:25326635 PMID:25741868 PMID:26219881 PMID:27480077 PMID:28492532 PMID:28940310 PMID:31319225 PMID:32581362 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital disorder of glycosylation 127
        congenital disorder of glycosylation type I 73
          congenital disorder of glycosylation Iq 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 127
                congenital disorder of glycosylation type I 73
                  congenital disorder of glycosylation Iq 1
paths to the root