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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3860&ordering=-synonyms",
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"results": [
{
"identifier": "Nabais Sa-de Vries syndrome 1.",
"acronym": "NSDVS1.",
"accession": "DI-05805",
"synonyms": "Nabais Sa-de Vries syndrome, type 1.; NEDMIDF.; Neurodevelopmental disorder with microcephaly and dysmorphic facies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Dystrophia myotonica 2.",
"acronym": "DM2.",
"accession": "DI-02024",
"synonyms": "Myotonic dystrophy 2.; PROMM.; Proximal myotonic myopathy.; Ricker syndrome.; ",
"cross_references": "MeSH; D020967.",
"definition": "A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. ",
"keywords": null
},
{
"identifier": "Myotonia congenita, autosomal dominant.",
"acronym": "MCAD.",
"accession": "DI-01216",
"synonyms": "Myotonia levior.; THD.; Thomsen disease.; ",
"cross_references": "MeSH; D009224.",
"definition": "A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). ",
"keywords": null
},
{
"identifier": "Myotonia SCN4A-related.",
"acronym": "MYOSCN4A.",
"accession": "DI-00796",
"synonyms": "Myotonia congenita acetazolamide-responsive.; Myotonia congenita atypical.; Myotonia fluctuans.; Myotonia permanens.; Myotonia potassium-aggravated.; SCM.; Sodium channel muscle disease.; ",
"cross_references": "MeSH; D020967.",
"definition": "A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise. ",
"keywords": null
},
{
"identifier": "Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset.",
"acronym": "RBMX1A.",
"accession": "DI-02458",
"synonyms": "Myopathy, reducing body, X-linked, early-onset, severe.; ",
"cross_references": "MeSH; D009135.",
"definition": "A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. Death in childhood is frequent in the severe form of the disease, due to respiratory failure. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 9A.",
"acronym": "CMYP9A.",
"accession": "DI-05793",
"synonyms": "Myopathy, congenital, with respiratory insufficiency and bone fractures.; MYORIBF.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive muscular disorder characterized by severe hypotonia apparent at birth, poor feeding, ulnar deviation of the hands, laterally deviated feet, fractures of the long bones, respiratory insufficiency due to muscle weakness, and death in infancy. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 9B, proximal, with minicore lesions.",
"acronym": "CMYP9B.",
"accession": "DI-05794",
"synonyms": "Myopathy, congenital proximal, with minicore lesions.; MYOPMIL.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive, slowly progressive muscular disorder characterized by primarily proximal muscle weakness, neonatal hypotonia leading to delayed motor development, mildly delayed walking in childhood, and difficulty running or climbing. Cardiac function is unaffected, but most patients have obstructive sleep apnea. Muscle biopsy shows type 1 fiber predominance with disorganized Z-lines and minicores that disrupt the myofibrillar striation pattern. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 19.",
"acronym": "CMYP19.",
"accession": "DI-05660",
"synonyms": "Myopathy, congenital, progressive, with scoliosis.; MYOSCO.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 12.",
"acronym": "CMYP12.",
"accession": "DI-01385",
"synonyms": "Myopathy, congenital, Compton-North.; MYPCN.; ",
"cross_references": "MeSH; D020914.",
"definition": "A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 10B, mild variant.",
"acronym": "CMYP10B.",
"accession": "DI-06620",
"synonyms": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant.; ",
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive skeletal muscle disorder characterized by infantile or childhood onset of proximal and distal weakness of upper and lower limbs, facial weakness, areflexia, dysphagia, and respiratory distress. Muscle biopsy shows myopathic changes including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 15.",
"acronym": "CMYP15.",
"accession": "DI-06570",
"synonyms": "MYONRI.; Myopathy, congenital, with neonatal respiratory insufficiency.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant myopathy characterized by neonatal onset of hypotonia, muscle weakness, and respiratory muscle involvement resulting in severe respiratory insufficiency. The disorder improves over time, although forced vital capacity remains decreased. Other features include facial weakness, often with ptosis or external ophthalmoplegia, jaw or distal joint contractures, scoliosis, and osteopenia. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 11.",
"acronym": "CMYP11.",
"accession": "DI-06458",
"synonyms": "MYONP.; Myopathy, congenital, non-progressive.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, motor delay, and walking difficulties. The course of the disease is non-progressive, and affected individuals achieve independent ambulation and tend to show improvement of muscle weakness throughout childhood and early adulthood. ",
"keywords": null
},
{
"identifier": "Myopathy, sarcoplasmic body.",
"acronym": "MYOSB.",
"accession": "DI-06630",
"synonyms": "Myoglobinopathy.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant, slowly progressive muscle disorder manifesting in adulthood with proximal and axial weakness that progresses to involve distal muscles. Patients may lose ambulation after a long disease course, and some individuals develop respiratory or cardiac symptoms. Muscle pathology features include sarcoplasmic bodies in skeletal and cardiac muscles. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 16.",
"acronym": "CMYP16.",
"accession": "DI-05629",
"synonyms": "Myogenic tremor.; Myopathy, congenital, with tremor.; MYOTREM.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant muscular disorder characterized by muscle weakness, hypotonia associated with high-frequency postural tremor of the limbs, mildly delayed walking, and steppage gait. Additional features include skeletal deformities such as scoliosis, thoracic asymmetry and spinal rigidity. Some patients show mild facial dysmorphic features. Cognitive functions are normal. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 14.",
"acronym": "CMYP14.",
"accession": "DI-05562",
"synonyms": "MYOFTA.; Myopathy, congenital, with fast-twitch (type II) fiber atrophy.; Myopathy, congenital, with fast-twitch type II fiber atrophy.; ",
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive congenital myopathy characterized by decreased fetal movements, severe muscle weakness and respiratory failure. Additional features include delayed motor development, areflexia, facial weakness, normal eye movements, head lag, and mild contractures. Skeletal muscle biopsy shows variation in fiber size with atrophy of the fast-twitch type II fibers. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 17.",
"acronym": "CMYP17.",
"accession": "DI-05895",
"synonyms": "MYODRIF.; Myopathy, congenital, due to MYOD1 deficiency.; Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive muscular disorder characterized by hypotonia and respiratory insufficiency apparent soon after birth, high diaphragmatic dome on imaging, poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some affected individuals. Additional variable features include delayed motor development, mildly decreased endurance, distal arthrogryposis, and lung hypoplasia resulting in early death. ",
"keywords": null
},
{
"identifier": "Myeloproliferative/lymphoproliferative neoplasms, familial.",
"acronym": "MPLPF.",
"accession": "DI-04687",
"synonyms": "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types).; ",
"cross_references": "MeSH; D054437.",
"definition": "A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "MIRAGE syndrome.",
"acronym": "MIRAGE.",
"accession": "DI-04777",
"synonyms": "Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.; ",
"cross_references": "MeSH; D006130.",
"definition": "A form of syndromic adrenal hypoplasia characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. ",
"keywords": null
},
{
"identifier": "Ataxia-pancytopenia syndrome.",
"acronym": "ATXPC.",
"accession": "DI-04781",
"synonyms": "Myelocerebellar disorder.; ",
"cross_references": "MeSH; D010198.",
"definition": "An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 68.",
"acronym": "IMD68.",
"accession": "DI-02015",
"synonyms": "MYD88D.; MYD88 deficiency.; Recurrent pyogenic bacterial infections due to MYD88 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by life- threatening, often recurrent, pyogenic bacterial infections, including invasive pneumococcal disease, beginning in infancy or early childhood. ",
"keywords": null
}
]
}