Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
neurotrophic keratoconjunctivitis	DOID_12125
episcleritis periodica fugax	DOID_12124
olivopontocerebellar atrophy	DOID_14784	[A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives.]
gonococcal synovitis	DOID_13454
synovitis	DOID_2703	[A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.]
postinflammatory pulmonary fibrosis	DOID_12123
French Canadian Leigh disease	DOID_0111180	[A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.]
Dubowitz syndrome	DOID_14796	[A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.]
obsolete Yersinia enterocolitica intestinal infectious disease	DOID_12133	[A Yersinia infectious disease that involves infection of the intestine caused by Yersinia enterocolitica. The symptoms include fever, abdominal pain, and diarrhea (often bloody in children).]
molybdenum cofactor deficiency	DOID_0111165	[A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage.]
granulomatosis with polyangiitis	DOID_12132	[An autoimmune hypersensitivity disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.]
molybdenum cofactor deficiency type C	DOID_0111166	[A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23.]
Blount's disease	DOID_14798	[An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally.]
molybdenum cofactor deficiency type B	DOID_0111163	[A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.]
urethral intrinsic sphincter deficiency	DOID_13461
molybdenum cofactor deficiency type A	DOID_0111164	[A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.]
Crouzon syndrome-acanthosis nigricans syndrome	DOID_0111161	[A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.]
epidermal nevus	DOID_0111162	[A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.]
camptodactyly-tall stature-scoliosis-hearing loss syndrome	DOID_0111160	[A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.]
dysthymic disorder	DOID_12139	[A mood disorder that involves the presence of a low mood almost daily over a span of at least two years.]