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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 IDUA 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
For additional species annotation, visit the Alliance of Genome Resources.


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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, MPS-I-H/S
ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S
OMIM
ClinVar
PMID:1301196, PMID:1301941, PMID:1505961, PMID:4221470, PMID:7550232, PMID:7951228, PMID:8213840, PMID:8328452, PMID:8401515, PMID:8664897, PMID:8680403, PMID:9391892, PMID:9427149, PMID:9787109, PMID:10215409, PMID:10466419, PMID:10735634, PMID:10738517, PMID:10911525, PMID:11159948, PMID:11735025, PMID:12189649, PMID:12509712, PMID:14559116, PMID:15521993, PMID:15862278, PMID:16435195, PMID:16435211, PMID:17570076, PMID:18796143, PMID:19396826, PMID:19748810, PMID:19751987, PMID:20301341, PMID:21394825, PMID:21480867, PMID:21521498, PMID:21624210, PMID:21639919, PMID:21734815, PMID:21831683, PMID:22074387, PMID:22976768, PMID:23084433, PMID:23786846, PMID:24033266, PMID:24036510, PMID:24314423, PMID:24368159, PMID:24480078, PMID:24698225, PMID:24798265, PMID:25741868, PMID:27146977, PMID:27196898, PMID:27511503, PMID:27520059, PMID:28492532, PMID:28752568, PMID:29393969, PMID:29801497, PMID:30809705 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 IH/S
ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/S
ClinVar PMID:1301941, PMID:1505961, PMID:7951228, PMID:8213840, PMID:8401515, PMID:8664897, PMID:8680403, PMID:9427149, PMID:9787109, PMID:10215409, PMID:11159948, PMID:11735025, PMID:14559116, PMID:15862278, PMID:18796143, PMID:19396826, PMID:21394825, PMID:21480867, 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 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                mucopolysaccharidosis Ih/s 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            lysosomal storage disease 527
              mucopolysaccharidosis 29
                mucopolysaccharidosis I 3
                  mucopolysaccharidosis Ih/s 2
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.