All terms in MONDO_RARE

Label Id Description
neutropenia, severe congenital, 8, autosomal dominant MONDO_0032899
refractory cytopenia of childhood MONDO_0044874 [The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood.]
refractory hematologic cancer MONDO_0004111 [A hematologic malignancy that is resistant to treatment.]
childhood myelodysplastic syndrome MONDO_0044873 [An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults.]
iatrogenic disease MONDO_0043543 [Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment.]
human disease MONDO_0700096
nosocomial infection MONDO_0043544 [An infection acquired in a hospital or other healthcare setting.]
viral conjunctivitis MONDO_0043541 [Conjunctivitis resulting from viral infection.]
conjunctivitis MONDO_0003799 [Inflammation of the conjunctiva of the eye.]
viral eye infection MONDO_0020950 [Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus.]
dystonia, focal, task-specific MONDO_0044871
focal dystonia MONDO_0000477 [A dystonia that is localized to a specific part of the body.]
lymphatic malformation 9 MONDO_0030270
lymphatic malformation MONDO_0019313 [Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.]
hyperinsulinemic hypoglycemia with polycystic kidney disease MONDO_1030000 [Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter.]
hyperinsulinemic hypoglycemia MONDO_0005803 [An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11.]
acute annular outer retinopathy MONDO_0017299
combined oxidative phosphorylation deficiency 55 MONDO_0859228
combined oxidative phosphorylation deficiency MONDO_0000732 [A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes.]
glycerol kinase deficiency, juvenile form MONDO_0017295 [Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness.]