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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:mucopolysaccharidosis Ih/s
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Accession:DOID:0111389 term browser browse the term
Definition:A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: MPS1-HS;   MPS1H/S;   MPSIH/S;   MUCOPOLYSACCHARIDOSIS, MPS-I-H/S;   Mucopolysaccharidosis Type Ih S;   Mucopolysaccharidosis Type Ihs;   Mucopolysaccharidosis type 1H/S
 primary_id: OMIM:607015
 xref: GARD:12560;   ICD10CM:E76.02;   NCI:C122782;   ORDO:93476


show annotations for term's descendants           Sort by:
mucopolysaccharidosis Ih/s 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: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:4221470 PMID:7550232 More... NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S ClinVar PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8213840 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                mucopolysaccharidosis Ih/s 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            lysosomal storage disease 995
              mucopolysaccharidosis 44
                mucopolysaccharidosis I 3
                  mucopolysaccharidosis Ih/s 2
paths to the root