All terms in MONDO_RARE

Label Id Description
developmental and epileptic encephalopathy, 78 MONDO_0032812
pemphigoid gestationis MONDO_0006558 [A rare pregnancy-associated autoimmune skin disease that is characterized by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever.]
pregnancy disorder MONDO_0024575 [A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.]
pemphigus MONDO_0006594 [Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus]
developmental and epileptic encephalopathy, 79 MONDO_0032813
leiomyoma of vulva and esophagus MONDO_0007887
X-linked diffuse leiomyomatosis-Alport syndrome MONDO_0010641 [A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.]
night blindness, congenital stationary, type1i MONDO_0032811
congenital stationary night blindness MONDO_0016293
GUCY2D-related recessive retinopathy MONDO_0100453 [A retinopathy caused by biallelic variants in the GUCY2D gene.]
hemangioma of subcutaneous tissue MONDO_0006557 [A hemangioma arising from the subcutaneous soft tissues.]
integumentary system benign neoplasm MONDO_0000652 [A benign neoplasm that involves the integumental system.]
subcutaneous tissue disorder MONDO_0019296 [A disease involving the superficial fascia.]
hereditary leiomyomatosis and renal cell cancer MONDO_0007888 [Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.]
abscess MONDO_0005227 [An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body.]
infectious disease MONDO_0005550 [A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent in humans. It can be transmitted by direct or indirect contact.]
IKZF1 13176
Legg-Calve-Perthes disease MONDO_0007885 [A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.]
osteochondrosis MONDO_0018381 [A condition that is characterized by defective bone growth that affects the growth centers of bone.]
osteonecrosis of genetic origin MONDO_0018383 [An instance of osteonecrosis that is caused by a modification of the individual's genome.]