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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital disorder of glycosylation Iq term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        inherited metabolic disorder 1899
          carbohydrate metabolic disorder 327
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Iq 1
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            carbohydrate metabolic disorder 327
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Iq 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.