Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Pontiac fever	DOID_0050150	[A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days.]
congenital contractural arachnodactyly	DOID_0111595	[A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3.]
cataract 33	DOID_0110264	[A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12.]
pulmonary aspergilloma	DOID_0050153	[An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring.]
plasminogen deficiency type I	DOID_0111592	[A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26.]
cataract 35	DOID_0110261	[A cataract that has_material_basis_in variation in the region 19q13.]
aspiration pneumonia	DOID_0050152	[A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has symptom tachypnea and has symptom cough.]
distal arthrogryposis type 10	DOID_0111593	[A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1.]
cataract 45	DOID_0110262	[A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.]
Cohen syndrome	DOID_0111590	[A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2.]
obsolete mycoplasmal pneumonia	DOID_0050154	[A bacterial pneumonia caused by the genus Mycoplasma.]
congenital heart defects, hamartomas of tongue, and polysyndactyly	DOID_0111591	[A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15.]
cataract 7	DOID_0110260	[A cataract that has_material_basis_in variation in the region 17q24.]
cryptogenic organizing pneumonia	DOID_0050157	[An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope.]
idiopathic interstitial pneumonia	DOID_2797	[A pneumonia located_in the lung parenchyma of unknown cause.]
idiopathic pulmonary fibrosis	DOID_0050156	[An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.]
Sabethes	NCBITaxon_53551
cataract 3 multiple types	DOID_0110269	[A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.]
Culicini	NCBITaxon_53550
cataract 44	DOID_0110267	[A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22.]