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 1 - 10 of 180 in total
HPO ID HPO Term
HP:0000003 Multicystic kidney dysplasia
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000062 Ambiguous genitalia
HP:0000074 Ureteropelvic junction obstruction
HP:0000126 Hydronephrosis
HP:0000154 Wide mouth
HP:0000171 Microglossia
HP:0000175 Cleft palate
HP:0000212 Gingival overgrowth
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