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congenital dyserythropoietic anemia type IVb
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DOID_0051002 |
[A congenital dyserythropoietic anemia characterized by neonatal jaundice, hyperbilirubinemia, and severe congenital hemolytic anemia requiring transfusionn and that has_material_basis_in homozygous or compound heterozygous mutation in the KLF1 gene on chromosome 19p13.13.] |
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nephronophthisis 11
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DOID_0111118 |
[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.] |
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nephronophthisis 12
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DOID_0111119 |
[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24.] |
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nephronophthisis 7
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DOID_0111116 |
[A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13.] |
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nephronophthisis-like nephropathy 1
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DOID_0111117 |
[A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.] |
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nephronophthisis 3
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DOID_0111114 |
[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22.] |
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nephronophthisis 4
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DOID_0111115 |
[A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.] |
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nephronophthisis 1
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DOID_0111112 |
[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.] |
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nephronophthisis 2
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DOID_0111113 |
[A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.] |
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congenital nonspherocytic hemolytic anemia 8
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DOID_0051007 |
[A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the UMPH1 gene (NT5C3A) on chromosome 7p14.] |
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congenital nonspherocytic hemolytic anemia 9
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DOID_0051008 |
[A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.] |
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congenital nonspherocytic hemolytic anemia 4
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DOID_0051005 |
[A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.] |
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congenital nonspherocytic hemolytic anemia 5
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DOID_0051006 |
[A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22.] |
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congenital nonspherocytic hemolytic anemia 10
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DOID_0051009 |
[A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GSR gene on chromosome 8p21.] |
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maturity-onset diabetes of the young type 2
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DOID_0111100 |
[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.] |
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maturity-onset diabetes of the young type 9
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DOID_0111107 |
[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1.] |
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maturity-onset diabetes of the young type 10
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DOID_0111108 |
[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.] |
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maturity-onset diabetes of the young type 8
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DOID_0111105 |
[A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13.] |
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maturity-onset diabetes of the young type 7
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DOID_0111106 |
[A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25.] |
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Yersiniaceae
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NCBITaxon_1903411 |
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