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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: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
 xref: GARD:12561;   ICD10CM:E76.0;   NCI:C61265;   ORDO:93474
For additional species annotation, visit the Alliance of Genome Resources.


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Scheie syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Scheie Syndrome
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V
ClinVar
OMIM
PMID:1301196, PMID:1301941, PMID:1505961, PMID:1550122, PMID:2170400, PMID:2522450, PMID:4112371, PMID:4221470, PMID:7550232, PMID:7951228, PMID:8019563, PMID:8213840, PMID:8318992, PMID:8401515, PMID:8680403, PMID:9427149, PMID:9748610, PMID:9787109, PMID:10215409, PMID:10607946, PMID:10738517, PMID:10911525, PMID:11159948, PMID:11735025, PMID:11903343, PMID:12509712, PMID:16435195, PMID:18796143, PMID:19396826, PMID:19748810, PMID:19751987, PMID:20301341, PMID:21394825, PMID:21521498, PMID:21639919, PMID:21831683, PMID:22074387, PMID:22976768, PMID:23786846, PMID:24033266, PMID:24036510, PMID:24314423, PMID:24368159, PMID:24698225, PMID:24798265, PMID:25741868, PMID:27196898, PMID:27511503, PMID:28492532, PMID:28752568, PMID:29393969, PMID:30809705, PMID:31319225 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V ClinVar PMID:1301941, PMID:1505961, PMID:7951228, PMID:8401515, PMID:8680403, PMID:9427149, PMID:9787109, PMID:10215409, PMID:11159948, PMID:11735025, PMID:18796143, PMID:19396826, PMID:21394825, PMID:21831683, PMID:22976768, PMID:23786846, PMID:24033266, PMID:24314423, PMID:24368159, PMID:25741868, PMID:28492532, PMID:28752568, PMID:29393969 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Scheie syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            carbohydrate metabolic disorder 387
              mucopolysaccharidosis 29
                mucopolysaccharidosis I 3
                  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.