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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5420&ordering=-synonyms",
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"results": [
{
"identifier": "Myosclerosis autosomal recessive.",
"acronym": "MYOSAR.",
"accession": "DI-01246",
"synonyms": "Congenital myosclerosis of Lowenthal.; Myosclerotic myopathy.; ",
"cross_references": "MeSH; D003286.",
"definition": "A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. ",
"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": "Muscular dystrophy congenital due to integrin alpha-7 deficiency.",
"acronym": "MDCI.",
"accession": "DI-02701",
"synonyms": "Congenital myopathy due to integrin alpha-7 deficiency.; ",
"cross_references": "MeSH; D009136.",
"definition": "A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 16.",
"acronym": "CMS16.",
"accession": "DI-00365",
"synonyms": "Congenital myasthenic syndrome due to mutation in SCN4A.; Congenital myasthenic syndrome SCN4A-related.; Myasthenic syndrome, congenital, acetazolamide-responsive.; ",
"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. CMS16 is characterized by fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6.",
"acronym": "MDDGB6.",
"accession": "DI-01410",
"synonyms": "Congenital muscular dystrophy type 1D.; MDC1D.; Muscular dystrophy LARGE-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy associated with profound intellectual disability, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha- dystroglycan. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14.",
"acronym": "MDDGB14.",
"accession": "DI-03847",
"synonyms": "Congenital muscular dystrophy GMPPB-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and intellectual disability. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Congenital myopathy 3 with rigid spine.",
"acronym": "CMYP3.",
"accession": "DI-00795",
"synonyms": "Congenital merosin-positive muscular dystrophy with early spine rigidity.; Congenital muscular dystrophy Eichsfeld type.; Congenital muscular dystrophy merosin-positive with early spine rigidity.; Desmin-related myopathy with Mallory bodies.; MDRS1.; Minicore myopathy severe classic form.; Multicore myopathy severe classic form.; Multiminicore disease severe classic form.; Rigid spine muscular dystrophy 1.; Rigid spine syndrome.; RSMD1.; RSS.; SEPN1-related myopathy.; ",
"cross_references": "MeSH; D020914.",
"definition": "An autosomal recessive, slowly progressive muscular disorder apparent from birth or early childhood and characterized by hypotonia, proximal muscle weakness, poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Most patients remain ambulatory. Early ventilatory insufficiency may lead to death by respiratory failure. Additional features may include facial muscle weakness, amyotrophy, joint contractures, distal hyperlaxity, pulmonary hypertension with secondary cardiac dysfunction, and insulin resistance in patients with a low BMI. Skeletal muscle biopsy typically shows multiminicores and other abnormal non-specific myopathic findings. ",
"keywords": "KW-0911:Desmin-related myopathy.; "
},
{
"identifier": "Macrodactyly.",
"acronym": "MADAC.",
"accession": "DI-05365",
"synonyms": "Congenital macrodactylia.; Megalodactyly.; Type I macrodactyly.; ",
"cross_references": "MeSH; D017880.",
"definition": "A congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth affecting the digits or the entire hand or foot. ",
"keywords": null
},
{
"identifier": "Adrenal hyperplasia 1.",
"acronym": "AH1.",
"accession": "DI-01407",
"synonyms": "Congenital lipoid adrenal hyperplasia.; Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism.; Lipoid CAH.; ",
"cross_references": "MeSH; D000312.",
"definition": "The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted. ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "Spondylometaphyseal dysplasia, Sedaghatian type.",
"acronym": "SMDS.",
"accession": "DI-04167",
"synonyms": "Congenital lethal metaphyseal chondrodysplasia.; Sedaghatian chondrodysplasia.; ",
"cross_references": "MeSH; D010009.",
"definition": "A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDS is a neonatal lethal form characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, cardiac conduction defects, and central nervous system abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Cataract 16, multiple types.",
"acronym": "CTRCT16.",
"accession": "DI-02998",
"synonyms": "Congenital lamellar cataract.; CTPP2.; Posterior polar cataract 2.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Asplenia, isolated congenital.",
"acronym": "ICAS.",
"accession": "DI-03692",
"synonyms": "Congenital isolated hyposplenia.; Familial asplenia.; Splenic hypoplasia.; ",
"cross_references": "MeSH; D007153.",
"definition": "A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome. ",
"keywords": null
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 7.",
"acronym": "HSAN7.",
"accession": "DI-03988",
"synonyms": "Congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis.; Hereditary sensory and autonomic neuropathy type VII.; HSAN VII.; ",
"cross_references": "MeSH; D009477.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Neuropathy, hereditary sensory and autonomic, 5.",
"acronym": "HSAN5.",
"accession": "DI-00549",
"synonyms": "Congenital insensitivity to pain.; Hereditary sensory neuropathy type V.; HSAN V.; HSN V.; ",
"cross_references": "MeSH; D009477.",
"definition": "A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self-mutilation. The autonomic involvement is variable. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Hypothyroidism, congenital, non-goitrous, 1.",
"acronym": "CHNG1.",
"accession": "DI-00362",
"synonyms": "Congenital hypothyroidism due to TSH resistance.; Hypothyroidism due to unresponsiveness to thyrotropin.; Non-autoimmune hypothyroidism.; RTSH.; Thyroid-stimulating hormone resistance.; Thyrotropin resistance.; TSH resistance.; ",
"cross_references": "MeSH; D003409.",
"definition": "A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ",
"keywords": "KW-0984:Congenital hypothyroidism.; "
},
{
"identifier": "Hypogonadotropic hypogonadism 7 with or without anosmia.",
"acronym": "HH7.",
"accession": "DI-00595",
"synonyms": "Congenital hypogonadotropic hypogonadism normosmic.; HH.; Hypogonadotropic hypogonadism.; Idiopathic hypogonadotropic hypogonadism.; IHH.; Isolated hypogonadotropic hypogonadism.; ",
"cross_references": "MeSH; D007006.",
"definition": "A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). ",
"keywords": "KW-1016:Hypogonadotropic hypogonadism.; "
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 2.",
"acronym": "HHF2.",
"accession": "DI-01580",
"synonyms": "Congenital hyperinsulinism.; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.; Hyperinsulinism, congenital.; Hyperinsulinism, neonatal.; Nesidioblastosis.; Persistent hyperinsulinemic hypoglycemia of infancy.; PHHI.; ",
"cross_references": "MeSH; D044903.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 1.",
"acronym": "HHF1.",
"accession": "DI-01579",
"synonyms": "Congenital hyperinsulinism.; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia.; Hyperinsulinemic hypoglycemia of infancy.; Hyperinsulinism, congenital.; Hyperinsulinism, familial, with pancreatic nesidioblastosis.; Nesidioblastosis of pancreas.; Persistent hyperinsulinemic hypoglycemia of infancy.; PHHI.; ",
"cross_references": "MeSH; D044903.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF1 is the most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF1 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 2.",
"acronym": "CHTD2.",
"accession": "DI-02853",
"synonyms": "Congenital heart defects non-syndromic 2.; ",
"cross_references": "MeSH; D006330.",
"definition": "A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. ",
"keywords": null
},
{
"identifier": "Fibrosis of extraocular muscles, congenital, 2.",
"acronym": "CFEOM2.",
"accession": "DI-00353",
"synonyms": "Congenital fibrosis of extraocular muscles autosomal recessive.; Exotropic strabismus fixus.; FEOM2.; ",
"cross_references": "MeSH; D009886.",
"definition": "A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. ",
"keywords": null
}
]
}