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
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Scheie syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Idua iduronidase, alpha-L- 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
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  disease 14875
    syndrome 4220
      Scheie syndrome 2
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              mucopolysaccharidosis 25
                mucopolysaccharidosis I 2
                  Scheie syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.