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progressive familial intrahepatic cholestasis
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DOID_0070221 |
[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.] |
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intrahepatic cholestasis
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DOID_1852 |
[A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.] |
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intrahepatic cholestasis of pregnancy 1
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DOID_0070228 |
[An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.] |
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intrahepatic cholestasis of pregnancy
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DOID_0070227 |
[An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery.] |
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intrahepatic cholestasis of pregnancy 3
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DOID_0070229 |
[An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.] |
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progressive familial intrahepatic cholestasis 1
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DOID_0070226 |
[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.] |
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progressive familial intrahepatic cholestasis 4
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DOID_0070224 |
[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.] |
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progressive familial intrahepatic cholestasis 5
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DOID_0070225 |
[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.] |
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progressive familial intrahepatic cholestasis 2
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DOID_0070222 |
[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.] |
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progressive familial intrahepatic cholestasis 3
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DOID_0070223 |
[A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.] |
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pyrrolidinecarboxamide
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CHEBI_46770 |
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pyrrolidines
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CHEBI_38260 |
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rete ovarii
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UBERON_0010185 |
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susceptibility to mild malaria
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MIM_609148 |
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craniofacial suture
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UBERON_0009198 |
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fibrous joint
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UBERON_0002209 |
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benign recurrent intrahepatic cholestasis 1
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DOID_0070231 |
[A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.] |
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benign recurrent intrahepatic cholestasis
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DOID_0070230 |
[An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction.] |
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benign recurrent intrahepatic cholestasis 2
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DOID_0070232 |
[A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.] |
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Petrosaviidae
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NCBITaxon_1437197 |
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