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 81 - 90 of 180 in total
HPO ID HPO Term
HP:0006101 Finger syndactyly
HP:0006288 Advanced eruption of teeth
HP:0006482 Abnormal dental morphology
HP:0006501 Aplasia/Hypoplasia of the radius
HP:0006610 Wide intermamillary distance
HP:0006695 Atrioventricular canal defect
HP:0007018 Attention deficit hyperactivity disorder
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0007370 Aplasia/Hypoplasia of the corpus callosum
HP:0007477 Abnormal dermatoglyphics
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