| manager | 
	
		
		
	 | 
 
	| language | 
	- | 
 
| license | 
- | 
 
| created at | 
2021-12-22 03:08:20 UTC | 
 
| updated at | 
2021-12-22 07:06:09 UTC | 
 
 
 
 | 
 
MONDO_bioport_pref_name
 
 | 
  183,974 entries
      
 | 
There is 0 pattern entry.
  
      
    
    
    
  
    
  | 
    deafness, autosomal recessive 1b
   | 
  
    C567213   | 
  
    
   | 
  | 
    deafness, autosomal recessive 36, without vestibular involvement
   | 
  
    C567219   | 
  
    
   | 
  | 
    primary autosomal recessive, 5, with simplified gyral pattern microcephaly
   | 
  
    C567221   | 
  
    
   | 
  | 
    hypogammaglobulinemia, and reduced b cells immunodeficiency
   | 
  
    C567200   | 
  
    
   | 
  | 
    hereditary, 5 spherocytosis
   | 
  
    C567202   | 
  
    
   | 
  | 
    type 5 spherocytosis
   | 
  
    C567202   | 
  
    
   | 
  | 
    hereditary, 4 spherocytosis
   | 
  
    C567208   | 
  
    
   | 
  | 
    type 4 spherocytosis
   | 
  
    C567208   | 
  
    
   | 
  | 
    cantu craniofaciofrontodigital syndrome
   | 
  
    C567298   | 
  
    
   | 
  | 
    berardinelli-seip congenital, type 3 lipodystrophy
   | 
  
    C567282   | 
  
    
   | 
  | 
    congenital generalized, type 3 lipodystrophy
   | 
  
    C567282   | 
  
    
   | 
  | 
    usher syndrome, type IH
   | 
  
    C567227   | 
  
    
   | 
  | 
    pigmented hypomaturation type, 2 amelogenesis imperfecta
   | 
  
    C567279   | 
  
    
   | 
  | 
    type IH usher syndrome
   | 
  
    C567227   | 
  
    
   | 
  | 
    intermediate, with visceral involvement and rapid progression niemann-pick disease
   | 
  
    C567267   | 
  
    
   |