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🏥 Disease / Health Topic

Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly

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Clinical Trials
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Meta-Analyses
0
PubMed References
🏥 All Disease / Health Topic data fields for Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly
🏥 Names
Disease Name
Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly
Alias Names
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects; Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly
Topic Type
syndrome
🧬 Ontology Classifications
DisGeNET Type
disease
UMLS Type
Disease or Syndrome
MeSH Class
Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
🔗 External References
DisGeNET
C1837206
🔍 Raw view — every non-empty column on this row (24 fields)
name
Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly
alias name
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects; Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly
topic type
syndrome
disgenet disease type
disease
umls disease type
Disease or Syndrome
mesh disease class
Mental Disorders; Nervous System Diseases; Nutritional and Metabolic Diseases; Behavior and Behavior Mechanisms; Digestive System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms
umls disease type id
T047
mesh disease class id
F03; C06; C11; C18; F01; C23; C1
herb disease id
HBDIS015536
disgenet id
C1837206
mesh id
C563840
omim id
608885
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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