All terms in MONDO_CLINGEN

Label Id Description
hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO_0007818 [A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.]
hyper-IgE syndrome MONDO_0018037 [A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.]
inclusion body myositis MONDO_0007827 [A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.]
myositis disease MONDO_0021167 [An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.]
optic nerve disorder MONDO_0002135 [A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve).]
cranial nerve neuropathy MONDO_0003569 [A neoplastic or non-neoplastic disorder that affects one of the cranial nerves.]
central nervous system disorder MONDO_0002602 [A disease involving the central nervous system.]
disorder of visual system MONDO_0024458 [A disease that involves the visual system.]
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction MONDO_0100520 [The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.]
Alport syndrome MONDO_0018965 [A rare renal disease characterized by glomerular nephropathy with hematuria progressing to end-stage renal disease (ESRD), frequently associated with sensorineural deafness, and occasionally with ocular anomalies.]
hereditary nephritis MONDO_0005334 [A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane.]
homocystinuria without methylmalonic aciduria MONDO_0018964 [Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).]
inherited deficiency anemia MONDO_0016624
inborn disorder of cobalamin metabolism and transport MONDO_0019220
pyruvate metabolism disorder MONDO_0016789 [An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.]
inborn disorder of energy metabolism MONDO_0019243 [An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.]
TCF12-related craniosynostosis MONDO_0014128 [Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.]
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO_0013271
frontonasal dysplasia MONDO_0016643 [A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.]
Charcot-Marie-Tooth disease type 2D MONDO_0011091 [Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.]