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Ontology Browser

Term:
congenital bile acid synthesis defect (DOID:0050674)
Annotations: Rat: (7) Mouse: (7) Human: (8) Chinchilla: (7) Bonobo: (7) Dog: (7) Squirrel: (7) Pig: (7)
Parent Terms Term With Siblings Child Terms
17-beta hydroxysteroid dehydrogenase 3 deficiency +   
Aagenaes syndrome 
agnathia-otocephaly complex  
Antley-Bixler syndrome +   
apparent mineralocorticoid excess syndrome  
ARC syndrome +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
biliary atresia +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
caudal regression syndrome  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Cholesterol Pneumonia 
cleft palate-lateral synechia syndrome  
COACH syndrome +   
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma 
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital secretory chloride diarrhea 1  
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cortisone reductase deficiency +   
cryptophthalmia +   
cytochrome P450 oxidoreductase deficiency  
developmental cardiac valvular defect  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
extrahepatic cholestasis  
Familial Hypercholanemia +   
gastroschisis +   
glucocorticoid deficiency 1  
GRACILE syndrome  
Hardikar Syndrome 
hypospadias +   
imperforate anus +   
intrahepatic cholestasis +   
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Lathosterolosis  
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Lutz Richner Landolt Syndrome 
Lyngstadaas Syndrome 
Meckel's diverticulum 
MEND syndrome  
Mirizzi Syndrome 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
neural tube defect +   
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
obstructive jaundice +   
omphalocele  
orofacial cleft +   
Osteootohepatoenteric Syndrome  
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
Pseudovaginal Perineoscrotal Hypospadias  
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
Smith-Lemli-Opitz syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
visceral heterotaxy +   
X-linked ichthyosis +   
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: CBA ;   cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Xrefs: ICD10CM:K76.8 ;   OMIM:PS607765
Definition Sources: https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12543708 "DO" "DO"

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