All terms in DOID

Label Id Description
placenta UBERON_0001987
eccrine sweat gland cancer DOID_4921
eccrine adenocarcinoma DOID_4920 [An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin.]
thymus adenocarcinoma DOID_4923 [A thymic carcinoma that derives_from epithelial cells of glandular origin.]
breast secretory carcinoma DOID_4922 [A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm.]
oculopharyngodistal myopathy 3 DOID_0081299 [An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21.]
oculopharyngodistal myopathy DOID_0081296 [A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities.]
Antley-Bixler syndrome without disordered steroidogenesis DOID_0081290 [An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome.]
Antley-Bixler syndrome DOID_0081289 [A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period.]
essential tremor 6 DOID_0081295 [An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.]
myopathy DOID_423 [A muscular disease in which the muscle fibers do not function resulting in muscular weakness.]
oculopharyngodistal myopathy 1 DOID_0081297 [An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.]
oculopharyngodistal myopathy 2 DOID_0081298 [An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13.]
chronic traumatic encephalopathy DOID_0081291 [A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves.]
tauopathy DOID_680 [A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.]
traumatic brain injury DOID_0081292 [A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.]
salivary gland mucoepidermoid carcinoma DOID_0081293 [A mucoepidermoid carcinoma located_in the salivary gland.]
salivary gland carcinoma DOID_0050904 [A salivary gland cancer that has_material_basis_in epithelial cells.]
neuronal intranuclear inclusion disease DOID_0081294 [A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.]
granular cell carcinoma DOID_4903 [A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm.]