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 51 - 60 of 180 in total
HPO ID HPO Term
HP:0001510 Growth delay
HP:0001511 Intrauterine growth retardation
HP:0001543 Gastroschisis
HP:0001561 Polyhydramnios
HP:0001600 Abnormality of the larynx
HP:0001629 Ventricular septal defect
HP:0001631 Atrial septal defect
HP:0001643 Patent ductus arteriosus
HP:0001830 Postaxial foot polydactyly
HP:0001884 Talipes calcaneovalgus
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