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.]
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.]
congenital contractural arachnodactyly DOID_0111595 [A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.]
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.]
cataract 35 DOID_0110261 [A cataract that has_material_basis_in variation in the region 19q13.]
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.]
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 the VPS13B gene 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 the WDPCP gene 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 [A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.]
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
distal arthrogryposis type 1B DOID_0111598 [A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2.]