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beard
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UBERON_0010167 |
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congenital disorder of glycosylation type IIa
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DOID_0070253 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3.] |
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congenital disorder of glycosylation type IIb
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DOID_0070254 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.] |
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X-linked Emery-Dreifuss muscular dystrophy 6
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DOID_0070251 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.] |
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autosomal dominant Emery-Dreifuss muscular dystrophy 7
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DOID_0070252 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.] |
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autosomal dominant Emery-Dreifuss muscular dystrophy 5
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DOID_0070250 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.] |
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congenital disorder of glycosylation type IIg
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DOID_0070259 |
[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1.] |
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congenital disorder of glycosylation type IIe
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DOID_0070257 |
[A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.] |
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congenital disorder of glycosylation type IIf
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DOID_0070258 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.] |
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congenital disorder of glycosylation type IIc
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DOID_0070255 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.] |
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congenital disorder of glycosylation type IId
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DOID_0070256 |
[A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.] |
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susceptibility to colorectal cancer 2
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MIM_611469 |
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familial hyperinsulinemic hypoglycemia 5
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DOID_0070220 |
[A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13.] |
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hyperinsulinemic hypoglycemia
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DOID_13317 |
[A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.] |
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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.] |
