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 111 - 120 of 180 in total
HPO ID HPO Term
HP:0000081 Duplicated collecting system
HP:0000089 Renal hypoplasia
HP:0000104 Renal agenesis
HP:0000107 Renal cyst
HP:0000122 Unilateral renal agenesis
HP:0000187 Broad alveolar ridges
HP:0000193 Bifid uvula
HP:0000238 Hydrocephalus
HP:0000308 Microretrognathia
HP:0000341 Narrow forehead
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