All terms in DOID

Label Id Description
obsolete non-resectable hepatocellular carcinoma DOID_5019
obsolete regressing skin melanoma DOID_10042
anal spasm DOID_11374
renal cell carcinoma with MiT translocations DOID_0081413 [A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors.]
TFEB-rearranged renal cell carcinoma DOID_0081414 [A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11.]
megacolon DOID_11372 [A colonic disease that is characterized by an abnormal dilation of the colon.]
malignant eyelid melanoma DOID_10040 [A skin melanoma that arises from the upper or lower eyelid.]
TFE3-rearranged renal cell carcinoma DOID_0081415 [A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene.]
dysplastic nevus syndrome DOID_10041 [A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.]
functional diarrhea DOID_11371
childhood renal cell carcinoma with MiT translocations DOID_0081416 [A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood.]
ventricular fibrillation SYMP_0000899 [A cardiac fibrillation associated with quivering of the lower chambers of the heart, preventing blood from being pumped and causing cardiac arrest.]
round cell sarcoma with FUS-NFATC2 gene fusion DOID_0081410 [A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion.]
round cell sarcoma with EWSR1-non-ETS fusion DOID_0081406 [A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family.]
ventricular bradycardia SYMP_0000897 [A bradycardia associated with the generation of impules in the ventricles when impules from the atria fail to reach them, characterized by an electrocardiogram showing a heart rate below 50 BPM and a broad QRS complex.]
B-lymphoblastic leukemia with PAX5 p.P80R DOID_0081411 [A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation.]
B-lymphoblastic leukemia with DUX4 rearrangement DOID_0081412 [A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement.]
obsolete malignant junctional nevus melanoma DOID_10048
obsolete desmoplastic melanoma DOID_10049 [A skin malanoma that results_in nonpigmented lesions located_in sun-exposed areas of the body, most commonly on the head and neck.]
gnathomiasis DOID_11379 [A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis.]