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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:12559846 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:24102521 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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                mucopolysaccharidosis Ih/s 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            lysosomal storage disease 525
              mucopolysaccharidosis 31
                mucopolysaccharidosis I 3
                  mucopolysaccharidosis Ih/s 2
paths to the root