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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1240&ordering=synonyms",
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"results": [
{
"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, 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, 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, 14.",
"acronym": "CMS14.",
"accession": "DI-04340",
"synonyms": "CMSTA3.; Myasthenic syndrome, congenital, 14, with tubular aggregates.; Myasthenic syndrome, congenital, with tubular aggregates, 3.; ",
"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. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 15.",
"acronym": "CMS15.",
"accession": "DI-04339",
"synonyms": "CMSWTA.; Myasthenic syndrome, congenital, 15, without tubular aggregates.; Myasthenic syndrome, congenital, without tubular aggregates.; ",
"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. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Nephrotic syndrome 1.",
"acronym": "NPHS1.",
"accession": "DI-01414",
"synonyms": "CNF.; Congenital nephrotic syndrome.; Congenital nephrotic syndrome of the Finnish type.; Finnish congenital nephrosis.; ",
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. ",
"keywords": null
},
{
"identifier": "Crigler-Najjar syndrome 1.",
"acronym": "CN1.",
"accession": "DI-01449",
"synonyms": "CN-I.; Crigler-Najjar syndrome type I.; ",
"cross_references": "MedGen; C0010324.",
"definition": "Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Crigler-Najjar syndrome 2.",
"acronym": "CN2.",
"accession": "DI-01450",
"synonyms": "CN-II.; Crigler-Najjar syndrome type II.; ",
"cross_references": "MedGen; C2931132.",
"definition": "Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Microphthalmia/coloboma 12.",
"acronym": "MCOPCB12.",
"accession": "DI-02083",
"synonyms": "COAD.; COI.; Coloboma, ocular, autosomal dominant.; Coloboma of iris, choroid, and retina.; Ocular coloboma.; Uveoretinal coloboma.; ",
"cross_references": "MeSH; D003103.",
"definition": "A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB12 is an autosomal dominant form characterized by inter- and intrafamilial variability. Some patients also exhibit neurodevelopmental anomalies. ",
"keywords": null
},
{
"identifier": "Cerebroretinal microangiopathy with calcifications and cysts 1.",
"acronym": "CRMCC1.",
"accession": "DI-03394",
"synonyms": "Coats plus syndrome.; ",
"cross_references": "MeSH; D059345.",
"definition": "An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia. ",
"keywords": null
},
{
"identifier": "Haim-Munk syndrome.",
"acronym": "HMS.",
"accession": "DI-00539",
"synonyms": "Cochin Jewish disorder.; Keratosis palmoplantaris with periodontopathia and onychogryposis.; ",
"cross_references": "MeSH; D007645.",
"definition": "An autosomal recessive disorder characterized by palmoplantar keratosis, onychogryphosis and periodontitis. Additional features are pes planus, arachnodactyly, and acroosteolysis. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Deafness, autosomal dominant, 17.",
"acronym": "DFNA17.",
"accession": "DI-00845",
"synonyms": "cochleosaccular degeneration.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cone-rod dystrophy, X-linked 1.",
"acronym": "CORDX1.",
"accession": "DI-00327",
"synonyms": "COD1.; Cone dystrophy X-linked 1.; ",
"cross_references": "MeSH; D058499.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Coenzyme Q10 deficiency, primary, 1.",
"acronym": "COQ10D1.",
"accession": "DI-01354",
"synonyms": "Coenzyme Q deficiency 1.; CoQ deficiency 1.; Primary CoQ10 deficiency 1.; Ubiquinone deficiency 1.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Intellectual developmental disorder with speech delay and dysmorphic facies.",
"acronym": "IDDSDF.",
"accession": "DI-05618",
"synonyms": "Coffin-Siris syndrome 10.; CSS10.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism.",
"acronym": "IDDMOH.",
"accession": "DI-04132",
"synonyms": "Coffin-Siris syndrome 9.; CSS9.; MRD27.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by developmental delay, impaired intellectual development and microcephaly. Affected individuals may also have oculomotor apraxia, ocular malformations including coloboma, lens abnormalities and microphthalmia, and hypogonadotropic hypogonadism. Some patients may have finger clinodactyly and hypoplastic distal phalanges with nail hypoplasia, especially of the fifth digits. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Coffin-Siris syndrome 1.",
"acronym": "CSS1.",
"accession": "DI-04692",
"synonyms": "Coffin-Siris syndrome.; CSS.; Fifth digit syndrome.; HHID.; MRD12.; ",
"cross_references": "MeSH; D008607.",
"definition": "A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 4.",
"acronym": "COFS4.",
"accession": "DI-00260",
"synonyms": "COFS syndrome.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 2.",
"acronym": "COFS2.",
"accession": "DI-00259",
"synonyms": "COFS syndrome.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 1.",
"acronym": "COFS1.",
"accession": "DI-00258",
"synonyms": "COFS syndrome.; Pena-Shokeir syndrome type 2.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
}
]
}