All terms in MONDO_CLINGEN

Label Id Description
Charcot-Marie-Tooth disease type 2 MONDO_0018993 [A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.]
mucopolysaccharidosis type 9 MONDO_0011093 [An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.]
multiple carboxylase deficiency MONDO_0015454 [Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.]
inborn error of biotin metabolism MONDO_0020698
inborn carbohydrate metabolic disorder MONDO_0019214 [An inherited metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.]
autosomal agammaglobulinemia MONDO_0011096 [Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.]
isolated agammaglobulinemia MONDO_0016462 [Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.]
Coffin-Siris syndrome MONDO_0015452 [Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.]
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MONDO_0014120
muscular dystrophy-dystroglycanopathy, type A MONDO_0000171
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.]
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.]
disorder of sexual differentiation MONDO_0002145 [A congenital disorder characterized by abnormalities in the development of the sexual characteristics.]
gonadal disorder MONDO_0002259 [A non-neoplastic or neoplastic disorder that affects the testis or the ovary.]
hypogonadism MONDO_0002146 [A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.]
autonomic nervous system disorder MONDO_0001292 [A disease involving the autonomic nervous system.]
peripheral nervous system disorder MONDO_0003620 [A disease involving the peripheral nervous system.]