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GENE - TERM ANNOTATION REPORT

RGD ID: 1310943
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Idua
Name: alpha-L-iduronidase
Acc ID: DOID:0111389
Term: mucopolysaccharidosis Ih/s
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 the IDUA gene on chromosome 4p16.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10466419 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2128891 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550242 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Idua ISOIDUA (Homo sapiens)7240710OMIM  
Idua ISOIDUA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-I-H/SPMID:10215409 PMID:10466419 PMID:10735634 PMID:10738517 PMID:10911525 PMID:11159948 PMID:11735025 PMID:12189649 PMID:12203999 PMID:12509712 PMID:12559846 PMID:1301196 PMID:1301941 PMID:14559116 PMID:1505961 PMID:15300847 PMID:15521993 PMID:15862278 PMID:16199547 PMID:16435195 PMID:16435211 PMID:16438163 PMID:17570076 PMID:17576681 PMID:18796143 PMID:19396826 PMID:19748810 PMID:19751987 PMID:19839758 PMID:20301341 PMID:21394825 PMID:21462124 PMID:21480867 PMID:21521498 PMID:21624210 PMID:21639919 PMID:21734815 PMID:21831683 PMID:22074387 PMID:22306676 PMID:22976768 PMID:23084433 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:25741868 PMID:26260077 PMID:26825088 PMID:27146977 PMID:27196898 PMID:27511503 PMID:27520059 PMID:27896125 PMID:28492532 PMID:28676128 PMID:28752568 PMID:29282708 PMID:29393969 PMID:29654546 PMID:29801497 PMID:30093709 PMID:30442156 PMID:30809705 PMID:31194252 PMID:32188113 PMID:32432561 PMID:33073008 PMID:33098355 PMID:33301762 PMID:33517895 PMID:35787971 PMID:4221470 PMID:7550232 PMID:7550242 PMID:7951228 PMID:8019563 PMID:8213840 PMID:8328452 PMID:8401515 PMID:8664897 PMID:8680403 PMID:9391892 PMID:9427149 PMID:9536098 PMID:9748610 PMID:9787109
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