All terms in DOID

Label Id Description
congenital fibrosis of the extraocular muscles 1 DOID_0081015 [A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.]
congenital fibrosis of the extraocular muscles 2 DOID_0081016 [A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13.]
bradyopsia 1 DOID_0070363 [A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24.]
bradyopsia DOID_0050335 [A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions.]
bradyopsia 2 DOID_0070364 [A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13.]
primary biliary cholangitis 4 DOID_0070361 [A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32.]
primary biliary cholangitis DOID_12236 [A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.]
primary biliary cholangitis 5 DOID_0070362 [A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21.]
curator inference from authoritative source ECO_0007647 [A type of curator inference that is from what is generally considered an authoritative source on the topic, including model organism databases, newspaper articles, books, journal publications, etc.]
evidence ECO_0000000 [A type of information that is used to support an assertion.]
curator inference from book ECO_0007646 [A type of curator inference from published work based on a book, which may be a reference to a URL (for ebooks) or a DOI.]
primary biliary cholangitis 3 DOID_0070360 [A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2.]
curator inference from journal publication ECO_0007645 [A type of curator inference from published work reporting on research findings.]
curator inference from MedlinePlus dictionary ECO_0007644 [A type of curator inference from dictionary in which the reference is to an entry in the National Library of Medicine's MedLinePlus dictionary.]
curator inference from dictionary ECO_0007641 [A type of curator inference from published work in which the entry comes from a collection of words with definitions, usages, pronounciations, and more.]
curator inference from Merriam-Webster Dictionary ECO_0007643 [A type of curator inference from dictionary in which the reference is to an entry in the Merriam-Webster Dictionary.]
curator inference from Oxford Dictionary ECO_0007642 [A type of curator inference from dictionary in which the reference is to an entry in the Oxford Dictionaries.]
obsolete hemopoetic tissue disease DOID_69
restrictive dermopathy 1 DOID_0070369 [A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.]
curator inference from MedlinePlus encyclopedia ECO_0007640 [A type of curator inference from encyclopedia in which the reference is to an article in the National Library of Medicine's MedLinePlus encyclopedia.]