{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5520&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5480&ordering=-synonyms","results":[{"identifier":"Myasthenic syndrome, congenital, 13.","acronym":"CMS13.","accession":"DI-03511","synonyms":"CMSTA2.; Myasthenic syndrome, congenital, with tubular aggregates, 2.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS13 is characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 12.","acronym":"CMS12.","accession":"DI-03084","synonyms":"CMSTA1.; Limb-girdle myasthenia with tubular aggregates.; Myasthenia, congenital, with tubular aggregates 1.; Myasthenic syndrome, congenital, with tubular aggregates, 1.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS12 is characterized by onset of proximal muscle weakness in the first decade. Individuals with this condition have a recognizable pattern of weakness of shoulder and pelvic girdle muscles, and sparing of ocular or facial muscles. EMG classically shows a decremental response to repeated nerve stimulation, a sign of neuromuscular junction dysfunction. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 8.","acronym":"CMS8.","accession":"DI-04109","synonyms":"CMSPPD.; Congenital myasthenic syndrome due to agrin deficiency.; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects.; Myasthenic syndrome, congenital, with pre- and postsynaptic defects.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS8 is an autosomal recessive disease characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 1A, slow-channel.","acronym":"CMS1A.","accession":"DI-00368","synonyms":"CMS2A.; CMS IIa.; Congenital myasthenic syndrome post-synaptic slow-channel.; Congenital myasthenic syndrome type IIa.; Myasthenic syndrome, congenital, slow-channel.; SCCMS.; ","cross_references":"MeSH; D020294.","definition":"A common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS1A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.","acronym":"CMS11.","accession":"DI-04401","synonyms":"CMS1E.; CMS Ie.; Myasthenic syndrome, congenital, Ie.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.","acronym":"CMS4C.","accession":"DI-00369","synonyms":"CMS1D.; CMS1E.; CMS-ACHRD.; CMS Id.; CMS Ie.; Congenital myasthenic syndrome post-synaptic associated with acetylcholine receptor deficiency.; Congenital myasthenic syndrome type 1d.; Congenital myasthenic syndrome type 1e.; Congenital myasthenic syndrome type Id.; Congenital myasthenic syndrome type Ie.; Congenital myasthenic syndrome with facial dysmorphism associated with acetylcholine receptor deficiency.; FIM1.; Myasthenia, familial infantile, 1.; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4C is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 5.","acronym":"CMS5.","accession":"DI-00366","synonyms":"CMS1C.; CMSE.; CMS Ic.; Congenital myasthenic syndrome type 1c.; Congenital myasthenic syndrome type Ic.; EAD.; Endplate acetylcholinesterase deficiency.; End-plate acetylcholinesterase deficiency.; Engel congenital myasthenic syndrome.; Myasthenic syndrome, congenital, Engel type.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS5 inheritance is autosomal recessive. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 10.","acronym":"CMS10.","accession":"DI-00494","synonyms":"CMS1B.; CMS Ib.; Congenital myasthenic syndrome type 1b.; Congenital myasthenic syndrome type Ib.; LGM.; Myasthenia, limb-girdle, familial.; Myasthenic myopathy.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 6, presynaptic.","acronym":"CMS6.","accession":"DI-00370","synonyms":"CMS1A.; CMSEA.; CMS-EA.; CMS Ia.; Congenital myasthenic syndrome pre-synaptic associated with episodic apnea.; Congenital myasthenic syndrome type 1a.; Congenital myasthenic syndrome type Ia.; Familial infantile myasthenia gravis 2.; FIMG2.; Myasthenic syndrome, congenital, associated with episodic apnea.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Myasthenic syndrome, congenital, 4A, slow-channel.","acronym":"CMS4A.","accession":"DI-04397","synonyms":"CMS1A1.; CMS Ia1.; Congenital myasthenic syndrome type Ia1.; Myasthenia, familial infantile, 1.; ","cross_references":"MeSH; D020294.","definition":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. ","keywords":"KW-1004:Congenital myasthenic syndrome.; "},{"identifier":"Chronic recurrent multifocal osteomyelitis 3.","acronym":"CRMO3.","accession":"DI-06753","synonyms":"CMO.; Osteomyelitis, chronic multifocal.; ","cross_references":"MeSH; D056660.","definition":"An autosomal dominant autoinflammatory bone disease characterized by early-childhood onset of bone pain and arthritis caused by sterile osteomyelitis. ","keywords":null},{"identifier":"Neurodevelopmental disorder with hypotonia, neuropathy, and deafness.","acronym":"NEDHND.","accession":"DI-05015","synonyms":"CMND.; Myopathy, congenital, with neuropathy and deafness.; ","cross_references":"MeSH; D009468.","definition":"An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; "},{"identifier":"Tumor predisposition syndrome 3.","acronym":"TPDS3.","accession":"DI-04136","synonyms":"CMM10.; Glioma 9.; GLM9.; Long telomere syndrome, POT1-related.; Melanoma, cutaneous malignant 10.; ","cross_references":"MeSH; D008545.","definition":"An autosomal dominant disorder characterized by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance. Affected individuals can develop neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as lymphoid and myeloid cancers. The disorder is associated with elongated telomeres. ","keywords":null},{"identifier":"Craniometaphyseal dysplasia, autosomal dominant.","acronym":"CMDD.","accession":"DI-01445","synonyms":"CMDJ.; Craniometaphyseal dysplasia Jackson type.; ","cross_references":"MeSH; D019465.","definition":"An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ","keywords":null},{"identifier":"Autoinflammatory disease, familial, Behcet-like 3.","acronym":"AIFBL3.","accession":"DI-05466","synonyms":"CMCU.; Mucocutaneous ulceration, chronic.; ","cross_references":"MeSH; D012883.","definition":"An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. ","keywords":null},{"identifier":"Retinal degeneration autosomal recessive clumped pigment type.","acronym":"RDCP.","accession":"DI-03088","synonyms":"Clumped pigmentary retinal degeneration.; ","cross_references":"MeSH; D012162.","definition":"A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short- wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. ","keywords":null},{"identifier":"Digital clubbing, isolated congenital.","acronym":"DIGC.","accession":"DI-02474","synonyms":"Clubbing of digits.; Hereditary acropachy.; ","cross_references":"MeSH; D009260.","definition":"A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 2B.","acronym":"ARCL2B.","accession":"DI-01462","synonyms":"CL type IIB.; Cutis laxa autosomal recessive type IIB.; Cutis laxa with progeroid features.; ","cross_references":"MeSH; D003483.","definition":"A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 1A.","acronym":"ARCL1A.","accession":"DI-01236","synonyms":"CL type I.; Cutis laxa autosomal recessive type I.; Cutis laxa autosomal recessive type IA.; ","cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. ","keywords":null},{"identifier":"Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi.","acronym":"CLOVE.","accession":"DI-03487","synonyms":"CLOVES syndrome.; CLOVE syndrome.; Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities.; ","cross_references":"MeSH; D009506.","definition":"A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth. ","keywords":null}]}