All terms in MONDO_CLINGEN

Label Id Description
paroxysmal dyskinesia MONDO_0015427 [Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).]
paroxysmal dystonia MONDO_0016058
2-methylbutyryl-CoA dehydrogenase deficiency MONDO_0012392 [A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.]
retinal drusen MONDO_0006949 [Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.]
degeneration of macula and posterior pole MONDO_0002175
congenital brain dysgenesis due to glutamine synthetase deficiency MONDO_0012393
disorder of glutamine metabolism MONDO_0017352
epithelial neoplasm MONDO_0005626 [A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.]
urinary system disorder MONDO_0002118 [A disease involving the renal system.]
dystonic disorder MONDO_0003441 [A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.]
movement disorder MONDO_0005395 [Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.]
benign familial infantile epilepsy MONDO_0017615 [Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.]
benign partial infantile seizures MONDO_0015642
monogenic epilepsy MONDO_0015653
infancy electroclinical syndrome MONDO_0000413 [An electroclinical syndrome with onset in infancy occurring between birth and one year of age.]
centronuclear myopathy MONDO_0018947 [Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.]
pneumonitis MONDO_0043905 [An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia.]
inflammatory disease MONDO_0021166 [A disease involving a pathogenic inflammatory response in the anatomical structure.]
lung disorder MONDO_0005275 [A disease involving the lung.]
distal myopathy MONDO_0018949 [Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.]