All terms in MONDO_CLINGEN

Label Id Description
muscular dystrophy MONDO_0020121 [Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.]
arthrogryposis, renal dysfunction, and cholestasis 2 MONDO_0013255 [Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene.]
arthrogryposis-renal dysfunction-cholestasis syndrome MONDO_0017123 [Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.]
Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO_0100506 [An autosomal recessive, multisystem condition caused by pathogenic variants of the ERCC6 gene, encoding the DNA excision repair protein, ERCC-6. Cockayne spectrum with or without cerebrooculofacioskeletal syndrome is characterized by growth failure at birth, with little or no postnatal neurologic development in addition to congenital cataracts or other structural anomalies of the eye, early postnatal contractures of the spine (kyphosis, scoliosis) and joints, and death usually occurring by age five years. This term lumps Cockayne syndrome type 2/B (CSB), cerebrooculofacioskeletal syndrome 1 (COFS syndrome), and De Sanctis-Cacchione syndrome into a spectrum of disease.]
Cockayne syndrome MONDO_0016006 [A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.]
congenital structural myopathy MONDO_0002921 [A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.]
IFT140-related recessive ciliopathy MONDO_0100509 [Any ciliopathy in which the cause of the disease is biallelic variants in the IFT140 gene.]
ciliopathy MONDO_0005308 [A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.]
spondylometaphyseal dysplasia MONDO_0016763 [Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life.]
congenital myasthenic syndrome MONDO_0018940 [Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.]
neuromuscular junction disease MONDO_0020124 [Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.]
microcephaly, seizures, and developmental delay MONDO_0013254
microcephaly MONDO_0001149 [A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.]
enlarged vestibular aqueduct syndrome MONDO_0023069
otorhinolaryngologic disease MONDO_0024623 [Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases.]
auditory system disorder MONDO_0002409 [A disease involving the auditory system.]
spondyloepimetaphyseal dysplasia MONDO_0100510 [An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.]
muscle-eye-brain disease MONDO_0018939 [A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.]
congenital muscular dystrophy MONDO_0019950 [A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.]
renal tubular dysgenesis MONDO_0017609 [Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.]