All terms in MONDO_CLINGEN

Label Id Description
TCR-alpha-beta-positive T-cell deficiency MONDO_0014160 [A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta.]
oromandibular-limb anomalies syndrome MONDO_0015498
familial restrictive cardiomyopathy MONDO_0016340 [An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome.]
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO_0008726
glycosylphosphatidylinositol biosynthesis defect 21 MONDO_0032824
cardiomyopathy MONDO_0004994 [A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.]
very long chain acyl-CoA dehydrogenase deficiency MONDO_0008723 [An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.]
disorder of fatty acid oxidation and ketogenesis MONDO_0017713
familial hypertrophic cardiomyopathy MONDO_0024573 [Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.]
short chain acyl-CoA dehydrogenase deficiency MONDO_0008722 [Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.]
acyl-CoA dehydrogenase deficiency MONDO_0017714
hyperostosis MONDO_0002185 [Excessive thickening of bone.]
bone remodeling disease MONDO_0000833 [A bone disease that results in formation or resorption abnormalities located in bone.]
inherited epidermolysis bullosa MONDO_0019276 [Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.]
medium chain acyl-CoA dehydrogenase deficiency MONDO_0008721 [Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.]
epidermolysis bullosa MONDO_0006541 [Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.]
vesiculobullous skin disease MONDO_0006617 [Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990)]
exostosis MONDO_0002181 [Non-neoplastic overgrowth of bone.]
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities MONDO_0032829
inborn disorder of purine or pyrimidine metabolism MONDO_0019254