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schizophrenia
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DOID_5419 |
[A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.] |
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schizophrenia 5
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DOID_0070081 |
[A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26.] |
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schizophrenia 12
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DOID_0070088 |
[A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2.] |
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schizophrenia 13
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DOID_0070089 |
[A schizophrenia that has_material_basis_in a mutation on chromosome 15q13.] |
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schizophrenia 10
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DOID_0070086 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15.] |
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schizophrenia 11
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DOID_0070087 |
[A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3.] |
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schizophrenia 8
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DOID_0070084 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p.] |
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schizophrenia 9
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DOID_0070085 |
[A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2.] |
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schizophrenia 6
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DOID_0070082 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21.] |
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schizophrenia 7
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DOID_0070083 |
[A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32.] |
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schizophrenia 15
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DOID_0070091 |
[A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33.] |
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schizophrenia 16
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DOID_0070092 |
[A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3.] |
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schizophrenia 14
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DOID_0070090 |
[A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1.] |
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oculocutaneous albinism type V
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DOID_0070099 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24.] |
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oculocutaneous albinism type III
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DOID_0070097 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23.] |
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oculocutaneous albinism type IV
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DOID_0070098 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2.] |
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oculocutaneous albinism type IB
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DOID_0070095 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.] |
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digenic disease
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DOID_0080578 |
[A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes.] |
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oculocutaneous albinism type II
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DOID_0070096 |
[An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13.] |
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schizophrenia 18
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DOID_0070093 |
[A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2.] |
