All terms in MONDO_CLINGEN

Label Id Description
Charcot-Marie-Tooth disease MONDO_0015626 [An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.]
mandibulofacial dysostosis MONDO_0015483 [A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)]
familial dilated cardiomyopathy MONDO_0016333 [A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.]
familial cardiomyopathy MONDO_0005217 [An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.]
dilated cardiomyopathy MONDO_0005021 [Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.]
renal carcinoma MONDO_0005206 [A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms.]
kidney cancer MONDO_0002367 [Primary or metastatic malignant neoplasm involving the kidney.]
RAB23-related Carpenter syndrome MONDO_0008710 [Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.]
Carpenter syndrome MONDO_0019012 [An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation.]
restrictive cardiomyopathy MONDO_0005201 [A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.]
intrinsic cardiomyopathy MONDO_0000591 [A cardiomyopathy that is due to abnormalities in heart muscle cells.]
CPAMD8-related anterior segment dysgenesis MONDO_0015017 [Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene.]
anterior segment dysgenesis MONDO_0019503 [A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis).]
congenital myopathy with myasthenic-like onset MONDO_0018528 [Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.]
severe combined immunodeficiency due to CORO1A deficiency MONDO_0014168
T-B+ severe combined immunodeficiency MONDO_0044200 [T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive.]
congenital bile acid synthesis defect 6 MONDO_0015015 [Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.]
arrhythmogenic right ventricular cardiomyopathy MONDO_0016587 [Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.]
inherited primary ovarian failure MONDO_0019852 [An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.]
isolated dystonia MONDO_0015494 [A dystonia (disease) that is not part of a larger syndrome.]