All terms in MONDO_RARE

Label Id Description
dysplasia of the proximal femoral epiphyses MONDO_1030002 [A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.]
uterine corpus leiomyoma MONDO_0007886 [A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.]
hereditary disorder of connective tissue MONDO_0023603 [An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.]
fibroma MONDO_0005167 [A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts.]
benign neoplasm of corpus uteri MONDO_0021525 [A benign neoplasm that involves the body of uterus.]
leiomyoma MONDO_0001572 [A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.]
renal pelvis urothelial carcinoma MONDO_0005221 [A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.]
renal pelvis/ureter urothelial carcinoma MONDO_0020654 [A transitional cell carcinoma that arises from the renal pelvis and ureter.]
renal pelvis carcinoma MONDO_0005519 [A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.]
acute myeloblastic leukemia without maturation MONDO_0005224 [An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001)]
acute myeloid leukemia by FAB classification MONDO_0015667 [Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme.]
periodic fever, immunodeficiency, and thrombocytopenia syndrome MONDO_0007883
folliculitis MONDO_0006552 [Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds.]
disorder of pilosebaceous unit MONDO_0002917 [A disease that involves the pilosebaceous unit.]
dermatitis MONDO_0002406 [An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.]
acute myeloid leukemia with minimal differentiation MONDO_0005223 [An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)]
tooth agenesis, selective, 4 MONDO_0007881 [Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene.]
tooth agenesis MONDO_0005486 [A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.]
ectodermal dysplasia WNT10A related MONDO_0100358
alopecia mucinosa MONDO_0006551 [A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma.]