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Ontology Browser
Term:
inborn disorder of bile acid synthesis (EFO:MONDO:0019218)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
biotin metabolic disease +  
cerebral creatine deficiency syndrome +  
cholesterol metabolism disease +  
creatine biosynthetic process disease +  
disorder of beta and omega amino acid metabolism +  
disorder of fatty acid oxidation and ketogenesis +  
disorder of glutamine metabolism +  
disorder of melanin metabolism +  
disorder of phenylalanine metabolism +  
disorder of tyrosine metabolism +  
gamma-amino butyric acid metabolism disorder +  
glycine metabolism disease +  
inborn disorder of aspartate family metabolism +  
inborn disorder of bile acid synthesis +  
Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
inborn disorder of branched-chain amino acid metabolism +  
inborn disorder of gamma-aminobutyric acid metabolism 
inborn disorder of histidine metabolism +  
inborn disorder of methionine cycle and sulfur amino acid metabolism +  
inborn disorder of ornithine metabolism +  
inborn disorder of ornithine or proline metabolism +  
inborn disorder of proline metabolism +  
inborn disorder of serine family metabolism +  
inborn disorder of the gamma-glutamyl cycle +  
inborn disorder of tryptophan metabolism +  
inborn error of biotin metabolism +  
inherited fatty acid metabolism disorder +  
inherited lipoic acid biosynthesis defect +  
pyruvate metabolism disorder +  
recessive X-linked ichthyosis 
scurvy 
sterol biosynthesis disorder +  
urea cycle disorder +  
valine metabolism disease +  

Synonyms
Exact Synonyms: Bile Acid Synthesis Disorders ;   inborn bile acid biosynthetic process disorder ;   inborn error of bile acid biosynthetic process ;   rare inborn error of bile acid biosynthetic process
Related Synonyms: disorder of bile acid synthesis ;   inborn errors of bile acid synthesis
Alternate IDs: MONDO:0019218
Xrefs: GARD:18949 ;   GTR:AN0923838 ;   MEDGEN:98324 ;   NANDO:2200506 ;   NORD:854 ;   ORDO:79168 ;   UMLS:C0400973
Definition Sources: Orphanet:79168

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