All terms in DOID

Label Id Description
obsolete primary Streptomycetaceae infectious disease DOID_0050348
obsolete primary Mycobacteriaceae infectious disease DOID_0050347
obsolete opportunistic Nocardiaceae infectious disease DOID_0050349
primary hyperoxaluria DOID_2977 [A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones.]
obsolete commensal Pasteurellaceae infectious disease DOID_0050371
obsolete commensal Neisseriaceae infectious disease DOID_0050370
obsolete Leptospiraceae infectious disease DOID_0050373
breast adenomyoepithelioma DOID_1642 [A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells.]
obsolete commensal Haemophilus infectious disease DOID_0050372
benign breast adenomyoepithelioma DOID_1641 [A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells.]
obsolete primary Spirillaceae infectious disease DOID_0050375
obsolete Spirochaetaceae infectious disease DOID_0050374
obsolete Burkholderia cepacia complex infectious disease DOID_0050377
obsolete anaplasmosis DOID_0050376
hereditary pyropoikilocytosis DOID_0061026 [A hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells that has_material_basis_in mutation in the alpha-spectrin or the beta-spectrin gene.]
primary ciliary dyskinesia 42 DOID_0111855 [A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.]
autosomal recessive nonsyndromic deafness 76 DOID_0110524 [An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13.]
primary ciliary dyskinesia 43 DOID_0111856 [A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.]
autosomal recessive nonsyndromic deafness 77 DOID_0110525 [An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21.]
Duane retraction syndrome 1 DOID_0061027 [A Duane retraction syndrome that has_material_basis_in loci that maps to chromosome 8q13.]