FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Smith-Lemli-Opitz syndrome ID (Ontology) DOID:14692 (Human Disease)
Definition
Also Known As "Rutledge lethal multiple congenital anomaly syndrome" ; "Smith-Opitz-Inborn syndrome"
Comment
Links to External Ontologies
DO.org
Annotations
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 Genes
 Smith-Lemli-Opitz syndrome       1
 for disease ribbon | Smith-Lemli-Opitz syndrome       1
 model of | Smith-Lemli-Opitz syndrome       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lipid metabolism disorder
       |__Smith-Lemli-Opitz syndrome  1 rec.
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Is a lipid metabolism disorder
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Synonyms
  • "Rutledge lethal multiple congenital anomaly syndrome" EXACT
    "Smith-Opitz-Inborn syndrome" EXACT
Secondary IDs
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GARD:5683
ICD10CM:E78.72
MESH:D019082
MIM:270400
NCI:C85071
SNOMEDCT_US_2023_03_01:43929004
UMLS_CUI:C0175694