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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:12559846 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:24102521 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 16085
    syndrome 7041
      Scheie syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              mucopolysaccharidosis 31
                mucopolysaccharidosis I 3
                  Scheie syndrome 2
paths to the root