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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:1883197, 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: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:30442156, PMID:30809705, PMID:31133280 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: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 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                mucopolysaccharidosis Ih 3
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              mucopolysaccharidosis 29
                mucopolysaccharidosis I 3
                  mucopolysaccharidosis Ih 3
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.