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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
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Accession:DOID:0111390 term browser browse the term
Definition:A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3. (DO)
Synonyms:exact_synonym: DYSOSTOSIS MULTIPLEX;   Dysostosis multiplex syndrome;   Gargoylism;   Gargoylisms;   Hurler Disease;   Hurler Syndrome;   Hurler Syndrome Gargoylism;   Hurler disease MPS type 1H;   Hurler's Disease;   Hurler's Syndrome;   L-iduronidase deficiency, Hurler type;   MPS I - Hurler syndrome;   MPS1-H;   Mucopolysaccharidosis Type Ih;   Mucopolysaccharidosis type I severe form;   Pfaundler-Hurler Syndrome
 alt_id: OMIM:607014
 xref: GARD:12559;   ICD10CM:E76.01;   NCI:C61261;   ORDO:93473
For additional species annotation, visit the Alliance of Genome Resources.

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mucopolysaccharidosis Ih 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: Dysostosis multiplex
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome		 OMIM
ClinVar		 PMID:1301196 PMID:1301941 PMID:1505961 PMID:1550122 PMID:2170400 PMID:2522450 PMID:4112371 PMID:4221470 PMID:6821579 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8019572 PMID:8213840 PMID:8318992 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8554071 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:10466419 PMID:10607946 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:11903343 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:14516901 PMID:14559116 PMID:15081804 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16188808 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:17606547 PMID:18463126 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21253827 PMID:21393040 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:21963080 PMID:22074387 PMID:22976768 PMID:23084433 PMID:23210910 PMID:23430803 PMID:23465405 PMID:23786846 PMID:23837464 PMID:24033266 PMID:24036510 PMID:24053568 PMID:24102521 PMID:24314423 PMID:24368159 PMID:24480078 PMID:24698225 PMID:24798265 PMID:24875751 PMID:25098213 PMID:25256405 PMID:25525159 PMID:25557439 PMID:25558755 PMID:25614311 PMID:25741868 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27238910 PMID:27392569 PMID:27511503 PMID:27520059 PMID:27843123 PMID:27896125 PMID:27939258 PMID:28302345 PMID:28492532 PMID:28676128 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29143201 PMID:29393969 PMID:29620724 PMID:29801497 PMID:29843745 PMID:29906569 PMID:30083803 PMID:30442156 PMID:30809705 PMID:30903511 PMID:31133280 PMID:31194252 NCBI chr14:2,041,828...2,056,762
Ensembl chr14:2,042,411...2,056,762 		JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex ClinVar PMID:25741868 NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Dysostosis multiplex
ClinVar Annotator: match by term: Hurler syndrome
ClinVar Annotator: match by term: Gargoylism, Hurler Syndrome		 ClinVar PMID:1301941 PMID:1505961 PMID:6821579 PMID:7550232 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8477267 PMID:8664897 PMID:8680403 PMID:9427149 PMID:9748610 PMID:9787109 PMID:10215409 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:14559116 PMID:15300847 PMID:15862278 PMID:16438163 PMID:18796143 PMID:19396826 PMID:19839758 PMID:21394825 PMID:21480867 PMID:21831683 PMID:22976768 PMID:23430803 PMID:23465405 PMID:23786846 PMID:24033266 PMID:24036510 PMID:24314423 PMID:24368159 PMID:24798265 PMID:25256405 PMID:25557439 PMID:25741868 PMID:27146977 PMID:27238910 PMID:27511503 PMID:27843123 PMID:27939258 PMID:28492532 PMID:28721335 PMID:28725570 PMID:28728811 PMID:28752568 PMID:29393969 PMID:29843745 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 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                mucopolysaccharidosis Ih 3
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            lysosomal storage disease 580
              mucopolysaccharidosis 31
                mucopolysaccharidosis I 3
                  mucopolysaccharidosis Ih 3
paths to the root