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 161 - 170 of 180 in total
HPO ID HPO Term
HP:0002506 Diffuse cerebral atrophy
HP:0002566 Intestinal malrotation
HP:0002579 Gastrointestinal dysmotility
HP:0002611 Cholestatic liver disease
HP:0002983 Micromelia
HP:0003073 Hypoalbuminemia
HP:0003146 Hypocholesterolemia
HP:0003270 Abdominal distention
HP:0003577 Congenital onset
HP:0005280 Depressed nasal bridge
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