All terms in DOID

Label Id Description
obsolete syphilitic interstitial keratitis DOID_9855
ulcer of lower limbs DOID_8529 [A chronic ulcer of skin where the ulcer is not a decubitus ulcer.]
obsolete Synovial, tendon or bursa disorder DOID_12221
speech-language disorder-1 DOID_0111275 [A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.]
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis DOID_0111276 [A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1.]
angle-closure glaucoma DOID_13550 [A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.]
NARP syndrome DOID_0111273 [A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.]
CODAS syndrome DOID_0111274 [A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.]
Oliver-McFarlane syndrome DOID_0111271 [A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.]
occipital horn syndrome DOID_0111272 [A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease.]
isolated sulfite oxidase deficiency DOID_0111270 [An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2.]
obsolete secondary malignant neoplasm of large intestine and rectum DOID_12228
obsolete gonococcal urethritis DOID_13558
obsolete hearing disease DOID_12226
obsolete gonococcal keratosis DOID_13556
Plica syndrome DOID_12225
psoriasis 7 DOID_0111279 [A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R.]
obsolete pharyngeal gonorrhea DOID_13555
obsolete calcium deposits in tendon and bursa DOID_12224
obsolete gonococcal peritonitis DOID_13554