All terms in MONDO_CLINGEN

Label Id Description
TRAF3 haploinsufficiency MONDO_0100513 [Any Mendelian disease in which the cause of the disease is a mutation in the TRAF3 gene. TRAF3 haploinsufficiency caused by heterozygous loss of function (null) variants presents as an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.]
nemaline myopathy MONDO_0018958 [Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.]
complex cortical dysplasia with other brain malformations 2 MONDO_0014116 [Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.]
complex cortical dysplasia with other brain malformations MONDO_0000904
neurodevelopmental disorder with hypotonia, neuropathy, and deafness MONDO_0060496
neurodevelopmental disorder MONDO_0700092 [A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.]
mirror movements 1 and/or agenesis of the corpus callosum MONDO_0100515 [A familial congenital mirror movement disorder where individuals with heterozygous variants in DCC have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family).]
familial congenital mirror movements MONDO_0016558 [Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.]
complex neurodevelopmental disorder with motor features MONDO_0100516 [A complex neurodevelopmental disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). Additionally, the disorder features at least one phenotype associated with motor function, including but not limited to spasticity, hypo- or hypertonia, dyskinesia, choreo-athetosis, or ataxia.]
sphingolipidosis MONDO_0019255 [An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.]
Loeys-Dietz syndrome MONDO_0018954 [Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.]
Marfan and Marfan-related disorder MONDO_0017310
vascular disorder MONDO_0005385 [A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome.]
parietal foramina MONDO_0018953 [Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.]
PTEN hamartoma tumor syndrome MONDO_0017623 [A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS.]
familial primary hypomagnesemia with hypocalcuria MONDO_0017625
familial primary hypomagnesemia MONDO_0018100 [A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration.]
Charcot-Marie-Tooth disease type 4B3 MONDO_0014117 [Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).]
3-methylcrotonyl-CoA carboxylase deficiency MONDO_0018950 [3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.]
amyotrophic lateral sclerosis type 12 MONDO_0013264 [Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene.]