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ONTOLOGY REPORT - ANNOTATIONS


Term:Scheie syndrome
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Accession:DOID:0060222 term browser browse the term
Definition:A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO)
Synonyms:exact_synonym: MPS V;   MPS1-S;   MPS5;   Scheie's syndrome;   mucopolysaccharidosis 5;   mucopolysaccharidosis I S;   mucopolysaccharidosis Is;   mucopolysaccharidosis type 1S;   mucopolysaccharidosis type IS;   mucopolysaccharidosis type V
 primary_id: OMIM:607016
 alt_id: RDO:9003821
 xref: GARD:12561;   ORDO:93474
For additional species annotation, visit the Alliance of Genome Resources.


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Scheie syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua alpha-L-iduronidase JBrowse link 14 2,041,828 2,056,762 RGD:8554872
RGD:7240710
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Scheie syndrome 2
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          inherited metabolic disorder 1854
            carbohydrate metabolic disorder 321
              mucopolysaccharidosis 26
                mucopolysaccharidosis I 2
                  Scheie syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.