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non-syndromic X-linked intellectual disability 107
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DOID_0112054 |
[A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24.] |
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susceptibility to celiac disease 7
|
MIM_612005 |
|
|
primary ovarian insufficiency 13
|
DOID_0080870 |
[A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.] |
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non-syndromic X-linked intellectual disability 88
|
DOID_0112053 |
[A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24.] |
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susceptibility to celiac disease 8
|
MIM_612006 |
|
|
primary ovarian insufficiency 14
|
DOID_0080871 |
[A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31.] |
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non-syndromic X-linked intellectual disability 82
|
DOID_0112052 |
[A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25.] |
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susceptibility to celiac disease 9
|
MIM_612007 |
|
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primary ovarian insufficiency 15
|
DOID_0080872 |
[A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21.] |
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non-syndromic X-linked intellectual disability 30
|
DOID_0112051 |
[A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23.] |
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susceptibility to celiac disease 10
|
MIM_612008 |
|
|
primary ovarian insufficiency 16
|
DOID_0080873 |
[A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25.] |
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non-syndromic X-linked intellectual disability 63
|
DOID_0112050 |
[A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.] |
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IDH-wildtype glioblastoma
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DOID_0080878 |
[A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.] |
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non-syndromic X-linked intellectual disability 72
|
DOID_0112059 |
[A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28.] |
|
non-syndromic X-linked intellectual disability 41
|
DOID_0112058 |
[A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.] |
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polyamine
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CHEBI_88061 |
|
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Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
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DOID_7951 |
|
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X-linked hyper IgM syndrome
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DOID_6620 |
[A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3.] |
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Raynaud-Claes syndrome
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DOID_0112060 |
[A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2.] |
