All terms in DOID

Label Id Description
conserved_intergenic_variant SO_0002017
conserved_intron_variant SO_0002018
intron_variant SO_0001627
start_retained_variant SO_0002019
initiator_codon_variant SO_0001582
synonymous_variant SO_0001819
postpoliomyelitis syndrome DOID_4952 [A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems.]
obsolete central nervous system neuroepithelial neoplasm DOID_3621
obsolete leptomeningeal neoplasm DOID_4956
central nervous system melanocytic neoplasm DOID_4955 [A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells.]
childhood spinal cord tumor DOID_3637
Gerstmann syndrome DOID_4969 [A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia.]
Nelson syndrome DOID_4968
adrenal cortex disease DOID_3952 [An adrenal gland disease that is located_in the adrenal cortex.]
spinal cord intramedullary teratoma DOID_3639
Renal insufficiency HP_0000083
Abnormal renal physiology HP_0012211
pyrrolysine_loss SO_0002010
rare_amino_acid_variant SO_0002008
Horseshoe kidney HP_0000085