All terms in DOID

Label Id Description
SAPHO syndrome DOID_13677 [A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis.]
obsolete hyperkinetic heart syndrome DOID_12346
anorectal stricture DOID_11014
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 DOID_0110069 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14.]
posterior scleritis DOID_13676
juvenile amyotrophic lateral sclerosis with dementia DOID_0110067 [A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia.]
congenital dyserythropoietic anemia type Ia DOID_0111398 [A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2.]
congenital dyserythropoietic anemia type IIIa DOID_0111399 [A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23.]
frontotemporal dementia and/or amyotrophic lateral sclerosis 3 DOID_0110068 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35.]
susceptibility to pancreatic cancer 1 MIM_606856
obsolete drug induced sleep disorder DOID_8611
obsolete Congenital or acquired abnormality of vulva complicating pregnancy, childbirth, or the puerperium DOID_9940
steroid-induced glaucoma DOID_9946 [A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use.]
constant exophthalmos DOID_9945
obsolete spontaneous abortion complicated by shock DOID_8615
obsolete syphilitic episcleritis DOID_9943
recurrent hypersomnia DOID_8619 [A sleep disorder that involves recurring bouts of excessive amounts of sleepiness.]
residual stage corticosteroid-induced glaucoma DOID_9948
Peyronie's disease DOID_8616
amelogenesis imperfecta type 1A DOID_0110054 [An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.]