Hypothesis

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Last 7 days
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Scheie syndrome diagnosed after cerebral infarction

1
1. ClingenBaseline 23 Oct 2026
  
  in Baseline Annotations
  
  Scheie syndrome diagnosed after cerebral infarction
  
  PMID: 21167740
  
  Gene: IDUA
  
  Disease: MPS1
  
  Inheritance: Autosomal recessive
  
  PMID:21167740 DiseaseEntity:MPS1 Gene:IDUA InheritancePattern:AutosomalRecessive "NoEvidence" inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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Tags

PMID:21167740

Gene:IDUA

inferred_gene_hgnc:5391

"NoEvidence"

DiseaseEntity:MPS1

IDUA variant annotation

InheritancePattern:AutosomalRecessive

inferred_gene_source:Gene_Name

Annotators

ClingenBaseline

URL

pubmed.ncbi.nlm.nih.gov/21167740/