All terms in DOID

Label Id Description
C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis DOID_0060213 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.]
amyotrophic lateral sclerosis type 21 DOID_0060212 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5.]
gallbladder adenoma DOID_0050893 [A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder.]
bone squamous cell carcinoma DOID_0050896 [A bone carcinoma that derives_from squamous epithelial cells.]
amyotrophic lateral sclerosis type 20 DOID_0060211 [An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12.]
bone ameloblastoma DOID_0050895 [A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone.]
amyotrophic lateral sclerosis type 19 DOID_0060210 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2.]
phalanx chondroma DOID_0050898 [A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells.]
bone chondrosarcoma DOID_0050897 [A chondrosarcoma that is located_in bone.]
brain stem medulloblastoma DOID_0050899 [A brain stem cancer that begins in the lower part of the brain on the floor of the skull.]
obsolete amyotrophic lateral sclerosis type 17 DOID_0060208 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHMP2B gene on chromosome 3.]
amyotrophic lateral sclerosis type 16 DOID_0060207 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.]
amyotrophic lateral sclerosis type 15 DOID_0060206 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X.]
frontotemporal dementia and/or amyotrophic lateral sclerosis 6 DOID_0060205 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13.]
amyotrophic lateral sclerosis type 13 DOID_0060204 [An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility.]
amyotrophic lateral sclerosis type 12 DOID_0060203 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.]
Koolen de Vries syndrome DOID_0050880 [A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.]
infantile cerebellar-retinal degeneration DOID_0050883 [A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.]
amyotrophic lateral sclerosis type 11 DOID_0060202 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.]
amyotrophic lateral sclerosis type 10 DOID_0060201 [An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1.]