All terms in MONDO_RARE

Label Id Description
IVIC syndrome MONDO_0007836 [IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.]
congenital limb malformation MONDO_0019054
dysostosis MONDO_0018234 [A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones.]
congenital nonspherocytic hemolytic anemia MONDO_0006506 [Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.]
familial hemolytic anemia MONDO_0003689 [A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.]
inherited hemoglobinopathy MONDO_0019050 [An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.]
congenital anemia MONDO_0000577 [Anemia, the cause of which is present at birth.]
Johnson neuroectodermal syndrome MONDO_0007837 [Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.]
multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO_0015159
ectodermal dysplasia syndrome MONDO_0019287 [The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.]
islet cell adenomatosis MONDO_0007834 [A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia.]
endocrine pancreas disorder MONDO_0001933 [A disease involving the endocrine pancreas.]
acquired metabolic disease MONDO_0006504 [An instance of metabolic disease that is acquired during the lifetime of the individual.]
metabolic disease MONDO_0005066 [A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.]
acute respiratory distress syndrome MONDO_0006502 [Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.]
acute respiratory failure MONDO_0001208 [Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock.]
hemangioma MONDO_0006500 [A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.]
benign epithelial neoplasm MONDO_0036976 [A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites.]
benign blood vessel neoplasm MONDO_0024286 [A benign neoplasm arising from arteries or veins.]
congenital aortic valve insufficiency MONDO_0019809 [Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth.]