Smith-Lemli-Opitz syndrome

Summary
Synonym
  • Rutledge lethal multiple congenital anomaly syndrome
  • Smith-Opitz-Inborn syndrome
Super Class
lipid metabolism disorder
Disease Ontology
DOID:14692
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1717 DHCR7 7-dehydrocholesterol reductase
The Human Phenotype Ontology
Displaying entries 141 - 150 of 180 in total
HPO ID HPO Term
HP:0001397 Hepatic steatosis
HP:0001508 Failure to thrive
HP:0001522 Death in infancy
HP:0001558 Decreased fetal movement
HP:0001622 Premature birth
HP:0001623 Breech presentation
HP:0001639 Hypertrophic cardiomyopathy
HP:0001663 Ventricular fibrillation
HP:0001680 Coarctation of aorta
HP:0001744 Splenomegaly
Displaying 1 entry
Gene ID Gene Symbol Description
1717 DHCR7 7-dehydrocholesterol reductase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024