All terms in DOID

Label Id Description
autosomal recessive nonsyndromic deafness 67 DOID_0110518 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21.]
craniosynostosis 4 DOID_0061012 [A craniosynostosis that has_material_basis_in heterozygous mutation in the ERF gene on chromosome 19q13.]
X-linked congenital hemolytic anemia DOID_0111846 [A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1.]
autosomal recessive nonsyndromic deafness 63 DOID_0110515 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13.]
ovarian dysgenesis 9 DOID_0061013 [A 46 XX gonadal dysgenesis characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age that has_material_basis_in homozygous mutation in the SPIDR gene on chromosome 8q11.]
autosomal recessive nonsyndromic deafness 65 DOID_0110516 [An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3.]
osteogenesis imperfecta type 19 DOID_0111847 [An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12.]
ovarian dysgenesis 10 DOID_0061014 [A 46 XX gonadal dysgenesis characterized by primary amenorrhea and absent puberty that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12.]
obsolete bone marrow tansplantation nephropathy DOID_2980
obsolete commensal Fusobacteriaceae infectious disease DOID_0050368
kidney papillary necrosis DOID_2981
obsolete Myroides odoratus necrotizing fasciitis DOID_0050367
perinephritis DOID_2982
anuria DOID_2983
obsolete primary Mycoplasmataceae infectious disease DOID_0050369
obsolete chronic rejection of renal transplant DOID_2985
IgA glomerulonephritis DOID_2986 [A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.]
heart septal defect DOID_1681
familial Mediterranean fever DOID_2987 [An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.]
breast leiomyoma DOID_1623 [A breast benign neoplasm that has_material_basis_in smooth muscle cells.]