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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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primary coenzyme Q10 deficiency 2
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DOID_0070239 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1.] |
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Loeys-Dietz syndrome 3
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DOID_0070237 |
[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.] |
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Loeys-Dietz syndrome
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DOID_0050466 |
[A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.] |
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primary coenzyme Q10 deficiency 1
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DOID_0070238 |
[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23.] |
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Loeys-Dietz syndrome 1
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DOID_0070235 |
[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.] |
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Loeys-Dietz syndrome 5
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DOID_0070236 |
[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.] |
