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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1420&ordering=identifier",
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"results": [
{
"identifier": "Congenital lactase deficiency.",
"acronym": "COLACD.",
"accession": "DI-01406",
"synonyms": "Disaccharide intolerance II.; Hereditary alactasia.; ",
"cross_references": "MedGen; C0268179.",
"definition": "Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down- regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT. ",
"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
},
{
"identifier": "Congenital myopathy 10A, severe variant.",
"acronym": "CMYP10A.",
"accession": "DI-03358",
"synonyms": "EMARDD.; Myopathy, early-onset, areflexia, respiratory distress, and dysphagia.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive congenital myopathy characterized by onset at birth, or early in infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about half of patients. Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases. ",
"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 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": "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 13.",
"acronym": "CMYP13.",
"accession": "DI-03974",
"synonyms": "Congenital myopathy with cleft palate and malignant hyperthermia.; Myopathy, congenital, Bailey-Bloch.; MYPBB.; NAM.; Native American myopathy.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. ",
"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 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 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 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": "Congenital myopathy 18.",
"acronym": "CMYP18.",
"accession": "DI-06613",
"synonyms": "DHPR congenital myopathy.; DHPRM.; Dihydropyridine receptor congenital myopathy.; Myopathy, congenital, due to dihydropyridine receptor defect.; ",
"cross_references": "MeSH; D020512.",
"definition": "A congenital myopathy of variable severity, ranging from severe fetal akinesia to milder forms of muscle weakness. Most affected individuals show delayed motor development with generalized hypotonia and progressive axial and limb muscle weakness beginning soon after birth or in infancy. Additional features may include swallowing difficulties, external ophthalmoplegia, ptosis, high-arched palate, and respiratory insufficiency. Muscle biopsy shows variable morphologic abnormalities, including alveolar changes in the intermyofibrillar network, fiber size variability, focal disorganization, internal nuclei, and dilated sarcoplasmic reticulum and T-tubules. CMYP18 inheritance is autosomal dominant or recessive. ",
"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 1A, autosomal dominant, with susceptibility to malignant hyperthermia.",
"acronym": "CMYP1A.",
"accession": "DI-01331",
"synonyms": "CCD.; Central core disease of muscle.; ",
"cross_references": "MeSH; D020512.",
"definition": "An autosomal dominant myopathy characterized by hypotonia and proximal muscle weakness primarily affecting the lower limbs, beginning in infancy or early childhood. Some patients manifest later onset of symptoms. The clinical course of the disorder is usually slow or non- progressive in adulthood, and the severity of the symptoms is variable. Affected individuals typically show delayed motor development and usually achieve independent walking, although many have difficulty running or climbing stairs. Additional features often include mild facial weakness, joint laxity, shoulder girdle weakness, and skeletal manifestations, such as dislocation of the hips, foot deformities, scoliosis, and Achilles tendon contractures. Microscopic examination of affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques. Additional pathologic findings may also be observed on muscle biopsy. CMYP1A affected individuals are at risk for malignant hyperthermia, and both disorders may be present in the same family. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 1B, autosomal recessive.",
"acronym": "CMYP1B.",
"accession": "DI-02002",
"synonyms": "Minicore myopathy with external ophthalmoplegia.; MMDO.; Multicore myopathy with external ophthalmoplegia.; Multiminicore disease with external ophthalmoplegia.; ",
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive myopathy characterized by severe hypotonia and generalized muscle weakness and atrophy apparent soon after birth or in early childhood. Affected individuals show delayed motor development, proximal muscle weakness with axial and shoulder girdle involvement, difficulty walking or running, external ophthalmoplegia, and bulbar weakness often resulting in feeding difficulties and respiratory insufficiency. Disease severity is variable. Some affected individuals show symptoms in utero, including reduced fetal movements, polyhydramnios, and intrauterine growth restriction. Some patients have lethal fetal akinesia with death in utero. Muscle biopsy can show variable findings, including multiple and poorly circumscribed areas of sarcomere disorganization and mitochondria depletion (areas termed minicores). Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 20.",
"acronym": "CMYP20.",
"accession": "DI-06640",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive neuromuscular disorder characterized by variable manifestations. Some patients have congenital limb or distal contractures manifesting soon after birth, while others develop muscle weakness with difficulty running and climbing stairs in early childhood. Additional features may include facial dysmorphism, and delayed development with intellectual disability. Skeletal muscle biopsy may show variation in fiber size with type 1 fiber predominance and atrophy, hypertrophic type 2 fibers, and abundant nemaline bodies. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 21 with early respiratory failure.",
"acronym": "CMYP21.",
"accession": "DI-06656",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive muscle disorder characterized by diaphragmatic weakness, respiratory impairment, and spinal rigidity. Disease onset ranges from early childhood to adulthood and severity is variable. Death from respiratory failure may occur in severe cases. Some affected individuals may show developmental delay and hypertrophic cardiomyopathy. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 22A, classic.",
"acronym": "CMYP22A.",
"accession": "DI-06672",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22A is an autosomal recessive form characterized by fetal hypokinesia, polyhydramnios, and severe neonatal hypotonia associated with respiratory insufficiency. Affected individuals who survive the neonatal period have delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 22B, severe fetal.",
"acronym": "CMYP22B.",
"accession": "DI-06673",
"synonyms": null,
"cross_references": "MeSH; D020914.",
"definition": "A severe congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness apparent at birth, and specific pathological features on muscle biopsy. CMYP22B is an autosomal recessive form characterized by onset in utero. Affected individuals show fetal akinesia, and develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Death occurs in utero or soon after birth. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 23.",
"acronym": "CMYP23.",
"accession": "DI-02035",
"synonyms": "CAPM2.; Cap myopathy 2.; NEM4.; Nemaline myopathy 4.; TPM2-related nemaline myopathy.; ",
"cross_references": "MeSH; D017696.",
"definition": "An autosomal dominant muscular disorder characterized clinically by hypotonia and muscle weakness, and a static or slowly progressive clinical course. Disease onset ranges from birth to childhood. Histologic examination of muscle fibers shows various anomalies including fiber type disproportion, an irregular myofibrillar network, abnormal thread-like or rod-shaped structures, and cap-like structures which are well demarcated and peripherally located under the sarcolemma with abnormal accumulation of sarcomeric proteins. ",
"keywords": "KW-1057:Nemaline myopathy.; "
}
]
}