Hypothesis

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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler)

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler)
  
  PMID:20553232
  
  Gene: IDUA
  
  Disease: MPS1
  
  Inheritance: Autosomal recessive
  
  PMID:20553232 Gene:IDUA DiseaseEntity:MPS1 "NoEvidence" InheritancePattern:AutosomalRecessive inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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Tags

IDUA variant annotation

InheritancePattern:AutosomalRecessive

inferred_gene_hgnc:5391

inferred_gene_source:Gene_Name

"NoEvidence"

DiseaseEntity:MPS1

PMID:20553232

Gene:IDUA

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/20553232/