| 
    benign familial infantile, 4 convulsions
   | 
  
    C567231   | 
  
    
   | 
  | 
    benign familial infantile, 4 seizures
   | 
  
    C567231   | 
  
    
   | 
  | 
    Blastomyces dermatitidis infection
   | 
  
    5672   | 
  
    
   | 
  | 
    autosomal recessive inflammatory bowel disease 25
   | 
  
    C567251   | 
  
    
   | 
  | 
    niemann-pick disease, intermediate, protracted neurovisceral
   | 
  
    C567268   | 
  
    
   | 
  | 
    niemann-pick disease, intermediate, with visceral involvement and rapid progression
   | 
  
    C567267   | 
  
    
   | 
  | 
    mental retardation, joint hypermobility, and skin laxity, with or without metabolic abnormalities
   | 
  
    C567209   | 
  
    
   | 
  | 
    berardinelli-seip congenital lipodystrophy, type 3
   | 
  
    C567282   | 
  
    
   | 
  | 
    congenital, compton-north myopathy
   | 
  
    C567261   | 
  
    
   | 
  | 
    intermediate, protracted neurovisceral niemann-pick disease
   | 
  
    C567268   | 
  
    
   | 
  | 
    polymicrogyria, bilateral occipital
   | 
  
    C567201   | 
  
    
   | 
  | 
    recurrent paresis of cranial nerves
   | 
  
    C565672   | 
  
    
   | 
  | 
    congenital, and onychodystrophy, autosomal dominant deafness
   | 
  
    C567274   | 
  
    
   | 
  | 
    digenic retinitis pigmentosa 7
   | 
  
    C567263   | 
  
    
   | 
  | 
    bilateral occipital polymicrogyria
   | 
  
    C567201   | 
  
    
   |