All terms in DOID

Label Id Description
kidney fibrosarcoma DOID_5982
kidney sarcoma DOID_4242 [A kidney cancer that is located in the kidney's connective tissue.]
obsolete hamartoma of hypothalamus DOID_5981
bilateral retinoblastoma DOID_4650 [A retinoblastoma that develops in both eyes.]
Tay-Sachs disease DOID_3320 [A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.]
GM2 gangliosidosis DOID_3321 [A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes.]
skin ulcer SYMP_0000136 [A skin lesion that is characterized by a break in skin with loss of surface tissue, disintegration and necrosis of epithelial tissue, and often pus.]
skin lesion SYMP_0000092 [A skin and integumentary tissue symptom that is characterized by an abnormal change in structure of the skin that is especially circumscribed and well defined due to injury or disease.]
gangliosidosis DOID_2368 [A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides.]
intraocular retinoblastoma DOID_4653 [A retinoblastoma that is located_in the eye and has not spread to other parts of the body.]
kidney osteogenic sarcoma DOID_5983 [A kidney sarcoma that starts in the bones and that is located in the kidney.]
GM1 gangliosidosis DOID_3322 [A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside.]
sinusitis SYMP_0000134
nose symptom SYMP_0000388
Sandhoff disease DOID_3323 [A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.]
obsolete relapsed retinoblastoma DOID_4655
mood disorder DOID_3324 [A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.]
necrosis SYMP_0000132 [Necrosis is a general symptom where death of a portion of tissue differentially affected by local injury (as loss of blood supply, corrosion, burning, or the local lesion of a disease).]
hyperglobulinemic purpura DOID_3325
severe necrosis SYMP_0000133