All terms in DOID

Label Id Description
Enterobacterales NCBITaxon_91347
maturity-onset diabetes of the young type 4 DOID_0111103 [A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.]
maturity-onset diabetes of the young type 6 DOID_0111104 [A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.]
renal cysts and diabetes syndrome DOID_0111101 [A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.]
autosomal dominant tubulointerstitial kidney disease DOID_0060062 [A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades.]
maturity-onset diabetes of the young type 3 DOID_0111102 [A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.]
maturity-onset diabetes of the young type 11 DOID_0111109 [A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22.]
visceral heterotaxy 7 DOID_0051021 [A visceral heterotaxy that is characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the MMP21 gene on chromosome 10q26.]
focal segmental glomerulosclerosis 7 DOID_0111132 [A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31.]
visceral heterotaxy 8 DOID_0051022 [A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12.]
focal segmental glomerulosclerosis 8 DOID_0111133 [A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2.]
focal segmental glomerulosclerosis 5 DOID_0111130 [A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33.]
visceral heterotaxy 6 DOID_0051020 [A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21.]
focal segmental glomerulosclerosis 6 DOID_0111131 [A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2.]
visceral heterotaxy 11 DOID_0051025 [A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23.]
Amdoparvovirus carnivoran1 NCBITaxon_3051624
visceral heterotaxy 12 DOID_0051026 [A visceral heterotaxy that is characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects and that has_material_basis_in homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11.]
visceral heterotaxy 9 DOID_0051023 [A visceral heterotaxy that is characterized by randomization of organ laterality, resulting in defects such as situs inversus and dextrocardia and that has_material_basis_in homozygous mutation in the MNS1 gene on chromosome 15q21.]
visceral heterotaxy 10 DOID_0051024 [A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous mutation in the CFAP52 gene on chromosome 17p13.]
congenital generalized lipodystrophy type 4 DOID_0111138 [A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.]