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🏥 Disease / Health Topic

Smith-Lemli-Opitz Syndrome

3
Clinical Trials
0
Meta-Analyses
0
PubMed References
📋 Sample Trials
NCT00114634
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Completed · Phase 2
NCT00272844
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
Completed · Phase 1|Phase 2
NCT01773278
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Recruiting · Phase 2
📊 Sample Meta-Analyses
None linked yet.
📚 Sample References
None linked yet.
🏥 All Disease / Health Topic data fields for Smith-Lemli-Opitz Syndrome
🏥 Names
Disease Name
Smith-Lemli-Opitz Syndrome
Alias Names
Smith-Lemli-Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type Ii; 7-Dehydrocholesterol Reductase Deficiency; Smith-Lemli-Opitz Syndrome
Topic Type
syndrome
🧬 Ontology Classifications
DisGeNET Type
disease
UMLS Type
Disease or Syndrome
MeSH Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
DO Class
genetic disease; disease of metabolism
🔗 External References
Disease Ontology
14692
DisGeNET
C0175694
🔍 Raw view — every non-empty column on this row (27 fields)
name
Smith-Lemli-Opitz Syndrome
alias name
Smith-Lemli-Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type Ii; 7-Dehydrocholesterol Reductase Deficiency; Smith-Lemli-Opitz Syndrome
topic type
syndrome
disgenet disease type
disease
umls disease type
Disease or Syndrome
mesh disease class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
do disease class
genetic disease; disease of metabolism
umls disease type id
T047
mesh disease class id
C16; C18
do disease class id
DOID:0014667; DOID:630
herb disease id
HBDIS004178
disgenet id
C0175694
mesh id
D019082
do id
14692
omim id
270400

⚗️ Related Ingredients

1 · compounds in this herb
Clr

📋 Clinical Trials

3 · subject of clinical study
NCT00114634 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndro
→ Smith-Lemli-Opitz Syndrome
NCT00272844 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
→ Smith-Lemli-Opitz Syndrome
NCT01773278 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrom
→ Smith-Lemli-Opitz Syndrome|Cone-Rod Dystrophy|Hear
How relationships are computed
  • Clinical Trials / Meta-Analyses / References: direct foreign-key link via subject_entity_id (Phase 2d wireup)
  • Formula ↔ Herbs: text bridge via formulas.herbs_in_pinyin matching herbs.pinyin_name
  • Herb ↔ Ingredient: ACTIVE — direct link via herb_ingredients
  • Ingredient ↔ Target: ACTIVE — direct link via ingredient_targets
  • Target ↔ Disease: ACTIVE — direct link via target_health_topics
  • Herb → Target → Disease (full chemical spine): ACTIVE — joins all three link tables