Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
hematocele of tunica vaginalis testis	DOID_12332
lingual-facial-buccal dyskinesia	DOID_9854
obsolete nodular lymphoma involving lymph nodes of axilla and upper limb	DOID_8523
obsolete recurrent manic episodes	DOID_8521
congenital syphilis	DOID_9856	[A syphilis that results_in a multisystem infection in the fetus via the placenta.]
obsolete nodular lymphoma	DOID_8524
obsolete nodular lymphoma involving intra-abdominal lymph nodes	DOID_8525
obsolete syphilitic interstitial keratitis	DOID_9855
ulcer of lower limbs	DOID_8529	[Ulcer of lower limbs is 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
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.]
susceptibility to X-linked autism 5	OMIM_300847
obsolete secondary malignant neoplasm of large intestine and rectum	DOID_12228