Term:Scheie syndrome
go back to main search page
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.

show annotations for term's descendants       view all columns           Sort by:
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
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 14875
    syndrome 4220
      Scheie syndrome 2
Path 2
Term Annotations click to browse term
  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
paths to the root


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