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eyebrow
|
UBERON_0010163 |
|
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collection of hair on face
|
UBERON_0010165 |
|
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collection of hairs on head or neck
|
UBERON_0014382 |
|
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collection of hairs
|
UBERON_0010164 |
|
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excretory system
|
UBERON_8450002 |
|
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anatomical collection
|
UBERON_0034925 |
|
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beard
|
UBERON_0010167 |
|
|
congenital disorder of glycosylation type IIa
|
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.] |
|
congenital disorder of glycosylation type IIb
|
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
|
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.] |
|
autosomal dominant Emery-Dreifuss muscular dystrophy 7
|
DOID_0070252 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.] |
|
autosomal dominant Emery-Dreifuss muscular dystrophy 5
|
DOID_0070250 |
[An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.] |
|
congenital disorder of glycosylation type IIg
|
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
|
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
|
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.] |
|
congenital disorder of glycosylation type IIc
|
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.] |
|
congenital disorder of glycosylation type IId
|
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
|
MIM_611469 |
|
|
familial hyperinsulinemic hypoglycemia 5
|
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
|
DOID_13317 |
[A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.] |
