All terms in MONDO_CLINGEN

Label Id Description
non-severe combined immunodeficiency due to polymerase delta deficiency MONDO_0800145 [Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.]
mucopolysaccharidosis type 2 MONDO_0010674 [A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.]
kidney Wilms tumor MONDO_0019004 [An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.]
Wilms tumor MONDO_0006058 [An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.]
aplastic anemia MONDO_0015909 [Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.]
hereditary myoglobinuria MONDO_0000866
myopathy MONDO_0005336 [A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.]
multiple endocrine neoplasia type 2 MONDO_0019003 [Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).]
multiple endocrine neoplasia MONDO_0017169 [Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs.]
Gaucher disease MONDO_0018150 [Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).]
connective tissue disorder MONDO_0003900 [A disease involving the connective tissue.]
branchio-oto-renal syndrome MONDO_0007029 [A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).]
factor V and factor VIII, combined deficiency of, type 1 MONDO_0009206 [Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene.]
combined deficiency of factor V and factor VIII MONDO_0018175 [Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.]
autosomal dominant slowed nerve conduction velocity MONDO_0011998 [Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.]
hereditary motor and sensory neuropathy MONDO_0015358 [A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)]
pseudohyperaldosteronism type 2 MONDO_0011517 [Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.]
pregnancy disorder MONDO_0024575 [A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor.]
Wiedemann-Steiner syndrome MONDO_0011518 [Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.]
digestive system carcinoma MONDO_0006181 [A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.]