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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3920&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3880&ordering=-synonyms",
"results": [
{
"identifier": "Immunodeficiency 110 with lymphoproliferation.",
"acronym": "IMD110.",
"accession": "DI-03600",
"synonyms": "MST1 deficiency.; STK4 deficiency.; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations.; TIIAC.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T-cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect. Patients are at risk for developing lymphoproliferative disorders or lymphoma. ",
"keywords": null
},
{
"identifier": "Marshall-Smith syndrome.",
"acronym": "MRSHSS.",
"accession": "DI-03505",
"synonyms": "MSS.; ",
"cross_references": "MeSH; D019465.",
"definition": "A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, intellectual disability, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Inclusion body myopathy and brain white matter abnormalities.",
"acronym": "IBMWMA.",
"accession": "DI-06329",
"synonyms": "MSP6.; Multisystem proteinopathy 6.; ",
"cross_references": "MeSH; D057180.",
"definition": "An autosomal dominant, adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Cognitive impairment or frontotemporal dementia occurs in some patients. ",
"keywords": null
},
{
"identifier": "Myopathy, distal, with rimmed vacuoles.",
"acronym": "DMRV.",
"accession": "DI-04886",
"synonyms": "MSP4.; Multisystem proteinopathy 4.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles. ",
"keywords": null
},
{
"identifier": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3.",
"acronym": "IBMPFD3.",
"accession": "DI-03882",
"synonyms": "MSP3.; Multisystem proteinopathy 3.; ",
"cross_references": "MeSH; D057180.",
"definition": "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2.",
"acronym": "IBMPFD2.",
"accession": "DI-03892",
"synonyms": "MSP2.; Multisystem proteinopathy 2.; ",
"cross_references": "MeSH; D057180.",
"definition": "An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Smooth muscle dysfunction syndrome.",
"acronym": "SMDYS.",
"accession": "DI-03109",
"synonyms": "MSMDS.; Multisystemic smooth muscle dysfunction syndrome.; Mydriasis congenital with patent ductus arteriosus thoracic aortic aneurysm and vasculopathy.; ",
"cross_references": "MeSH; D015878.",
"definition": "An autosomal dominant syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 7B, myosin storage, autosomal recessive.",
"acronym": "CMYP7B.",
"accession": "DI-04466",
"synonyms": "MSMB.; Myopathy, hyaline body, autosomal recessive.; Myopathy, myosin storage, autosomal recessive.; ",
"cross_references": "MeSH; D009135.",
"definition": "A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. ",
"keywords": null
},
{
"identifier": "Oculopharyngeal muscular dystrophy 1.",
"acronym": "OPMD1.",
"accession": "DI-00881",
"synonyms": "Mscular dystrophy, oculopharyngeal.; ",
"cross_references": "MeSH; D039141.",
"definition": "An autosomal dominant, late-onset, slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. ",
"keywords": null
},
{
"identifier": "Congenital myopathy 8.",
"acronym": "CMYP8.",
"accession": "DI-05700",
"synonyms": "MSCD.; Multiple structured core disease.; MYOCOZ.; Myopathy, congenital, with structured cores and Z-line abnormalities.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines. ",
"keywords": null
},
{
"identifier": "Van Esch-O'Driscoll syndrome.",
"acronym": "VEODS.",
"accession": "DI-05626",
"synonyms": "MRXSVEOD.; ",
"cross_references": "MeSH; D008607.",
"definition": "An X-linked recessive syndrome characterized by different degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic 34.",
"acronym": "MRXS34.",
"accession": "DI-04618",
"synonyms": "MRXSML.; ",
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by intellectual deficit, delayed psychomotor development, poor speech, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type.",
"acronym": "MRXSCJ.",
"accession": "DI-00718",
"synonyms": "MRXSJ.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSCJ patients manifest intellectual disability associated with variable features such as slowly progressive spastic paraplegia, seizures, facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Christianson type.",
"acronym": "MRXSCH.",
"accession": "DI-01965",
"synonyms": "MRXS-Christianson.; X-linked Angelman-like syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A syndrome characterized by profound intellectual disability, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman syndrome. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type.",
"acronym": "WTS.",
"accession": "DI-03554",
"synonyms": "MRXS6.; MRXSWT.; Wilson-Turner syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. ",
"keywords": "KW-0550:Obesity.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Basilicata-Akhtar syndrome.",
"acronym": "MRXSBA.",
"accession": "DI-05649",
"synonyms": "MRXS36.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Nascimento-type.",
"acronym": "MRXSN.",
"accession": "DI-03285",
"synonyms": "MRXS30.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "MEHMO syndrome.",
"acronym": "MEHMO.",
"accession": "DI-05173",
"synonyms": "MRXS20.; MRXS25.; MRXSBRK.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. ",
"keywords": "KW-0550:Obesity.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Prieto syndrome.",
"acronym": "PRS.",
"accession": "DI-06804",
"synonyms": "MRXS2.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked recessive disorder characterized by impaired intellectual development, developmental delay, autism spectrum disorder, variable epilepsy, craniofacial dysmorphism, and structural brain abnormalities including polymicrogyria and cerebral atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Shashi type.",
"acronym": "MRXSSH.",
"accession": "DI-04582",
"synonyms": "MRXS11.; SMRXS.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS11 patients manifest moderate intellectual disability and craniofacial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}