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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
genetic disease +     
intrahepatic cholestasis +     
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 3  
age related macular degeneration 8  
Alagille syndrome +   
Alpha-2-Deficient Collagen Disease 
Aquaporin 1 Deficiency  
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
benign recurrent intrahepatic cholestasis +   
BOCKENHEIMER SYNDROME  
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
CADASIL +   
CAKUT2  
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
Cenani-Lenz syndactyly syndrome  
chromosomal disease +   
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
congenital bile acid synthesis defect 4  
Congenital Hepatic Fibrosis  
Congenital Pain Insensitivity +   
desquamative interstitial pneumonia  
Dwarfism +   
Familial Cirrhosis +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
Familial Temporal Epilepsy +   
frontotemporal dementia and/or amyotrophic lateral sclerosis 3  
frontotemporal dementia and/or amyotrophic lateral sclerosis 4  
Genetic Skin Diseases +   
Hereditary Bilateral Parotidomegaly 
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
inherited metabolic disorder +   
intrahepatic cholestasis of pregnancy +   
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Laminopathies +   
Marfan syndrome +   
monogenic disease +   
Nervous System Heredodegenerative Disorders +   
Nonimmune Chronic Idiopathic Neutropenia, Adult  
osteochondrodysplasia +   
polygenic disease +   
primary biliary cholangitis +   
primary hypertrophic osteoarthropathy +   
progressive familial intrahepatic cholestasis +   
An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)
Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease 
Sacral Agenesis with Vertebral Anomalies  
yellow nail syndrome +  

Synonyms
Exact Synonyms: PFIC; Byler disease
Xrefs: NCI:C84453 ;   OMIM:PS211600 ;   ORDO:172
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15239083 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8014759 "DO" "DO"

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