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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 I
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Accession:DOID:12802 term browser browse the term
Definition:A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. (DO)
Synonyms:exact_synonym: Hurler Scheie Syndrome;   IDUA-RELATED CONDITION;   Lipochondrodystrophies;   Lipochondrodystrophy;   Mucopolysaccharidosis 1;   Mucopolysaccharidosis, MPS-I;   alpha L Iduronidase Deficiency;   alpha-L-Iduronidase Deficiencies;   iduronidase deficiency disease;   mucopolysaccharidosis type 1;   mucopolysaccharidosis type I
 primary_id: MESH:D008059
 alt_id: OMIA:000664
 xref: GARD:10335;   NCI:C85053
For additional species annotation, visit the Alliance of Genome Resources.


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mucopolysaccharidosis I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase treatment ISO
ISS		 DNA:nonsense mutation:CDS:p.W402X (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:nonsense mutation: :p.W392X (mouse)
DNA:insertion, missense mutation: :704_705CTGCT, p.R89Q (human)
DNA:splice-site mutations:intron:c.792+1G>T, c.1190-1G>A (human)
DNA:insertion/deletion, missense mutations, nonsense mutation: :multiple
DNA:mutations:exon, intron:multiple
DNA:missense mutation, nonsense mutation: :p.P533R, p.Q10X (human)
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: IDUA-related condition | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1		 CTD
MouseDO
ClinVar
RGD		 PMID:1301196 PMID:1301941 PMID:1386236 PMID:1505961 PMID:1550122 More... RGD:1599894, RGD:12910497, RGD:12910499, RGD:12910501, RGD:12910502, RGD:12910503, RGD:12910504, RGD:12910508, RGD:12910509, RGD:12910510, RGD:12910513, RGD:12910516, RGD:12910716, RGD:12910718, RGD:12910719, RGD:12910720, RGD:12910721, RGD:11068482, RGD:11069860, RGD:329961545, RGD:329961548, RGD:329961554 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: Alpha-L-Iduronidase deficiency | ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
mucopolysaccharidosis Ih term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 More... NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:25741868 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome | ClinVar Annotator: match by term: Hurler syndrome ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7550242 More... NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
mucopolysaccharidosis Ih/s term browser
Symbol Object Name Qualifiers 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
Scheie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE V | ClinVar Annotator: match by term: Scheie Syndrome OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 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 V | ClinVar Annotator: match by term: Scheie Syndrome ClinVar PMID:1301941 PMID:1505961 PMID:7550242 PMID:7951228 PMID:8401515 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 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          carbohydrate metabolic disorder 3309
            mucopolysaccharidosis 44
              mucopolysaccharidosis I 3
                Scheie syndrome 2
                mucopolysaccharidosis Ih 3
                mucopolysaccharidosis Ih/s 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            lysosomal storage disease 995
              mucopolysaccharidosis 44
                mucopolysaccharidosis I 3
                  Scheie syndrome 2
                  mucopolysaccharidosis Ih 3
                  mucopolysaccharidosis Ih/s 2
paths to the root