All terms in MONDO_RARE

Label Id Description
spermatogenic failure 39 MONDO_0032845
osteogenesis imperfecta, type 20 MONDO_0032846
osteogenesis imperfecta MONDO_0019019 [Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.]
kernicterus due to isoimmunization MONDO_0006567 [Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus.]
bilirubin encephalopathy MONDO_0018477
liver adenosquamous carcinoma MONDO_0056815 [A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.]
adenosquamous carcinoma MONDO_0006074 [A carcinoma composed of malignant glandular cells and malignant squamous cells.]
round cell liposarcoma MONDO_0005238 [A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.]
myxoid/round cell liposarcoma MONDO_0020561 [Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.]
infantile liver failure syndrome 3 MONDO_0032844
infantile liver failure MONDO_0000023
juvenile dermatitis herpetiformis MONDO_0006565 [Dermatitis herpetiformis in children]
dermatitis herpetiformis MONDO_0015614 [Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance.]
acute monocytic leukemia MONDO_0007896 [Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).]
monocytic leukemia MONDO_0004600
acute myeloid leukemia MONDO_0018874 [Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections.]
non-small cell lung carcinoma MONDO_0005233 [A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.]
lung carcinoma MONDO_0005138 [A carcinoma that arises from epithelial cells of the lung]
keratosis MONDO_0006566 [A skin disorder consisting of hypertrophy of the stratum corneum of the skin.]
keratinization disease MONDO_0045011