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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3820&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3780&ordering=-synonyms",
"results": [
{
"identifier": "CFHR5 deficiency.",
"acronym": "CFHR5D.",
"accession": "DI-03555",
"synonyms": "Nephropathy due to CFHR5 deficiency.; ",
"cross_references": "MeSH; D005921.",
"definition": "A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. ",
"keywords": null
},
{
"identifier": "Dent disease 1.",
"acronym": "DENT1.",
"accession": "DI-00802",
"synonyms": "Nephrolithiasis 2.; Nephrolithiasis-hypercalciuria X-linked recessive.; NPHL2.; Urolithiasis, hypercalciuric, X-linked.; ",
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. DENT1 patients manifest hypercalciuria, hypophosphatemia, aminoaciduria, nephrocalcinosis and nephrolithiasis, renal insufficiency leading to renal failure in adulthood, rickets (33% of patients) and osteomalacia. ",
"keywords": null
},
{
"identifier": "Nephrolithiasis, X-linked recessive, with renal failure.",
"acronym": "XRN.",
"accession": "DI-00801",
"synonyms": "Nephrolithiasis 1.; NPHL1.; ",
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XRN patients present with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. ",
"keywords": null
},
{
"identifier": "Perlman syndrome.",
"acronym": "PRLMNS.",
"accession": "DI-03413",
"synonyms": "Nephroblastomatosis fetal ascites macrosomia and Wilms tumor.; Renal hamartomas nephroblastomatosis and fetal gigantism.; ",
"cross_references": "MeSH; D007680.",
"definition": "An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor. ",
"keywords": null
},
{
"identifier": "Alport syndrome 1, X-linked.",
"acronym": "ATS1.",
"accession": "DI-00082",
"synonyms": "Nephritis-deafness syndrome, X-linked.; Nephropathy and deafness, X-linked.; ",
"cross_references": "MeSH; D009394.",
"definition": "A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ",
"keywords": "KW-0023:Alport syndrome.; KW-0209:Deafness.; "
},
{
"identifier": "Alport syndrome 3A, autosomal dominant.",
"acronym": "ATS3A.",
"accession": "DI-02831",
"synonyms": "Nephritis-deafness syndrome.; Nephropathy and deafness.; ",
"cross_references": "MeSH; D009394.",
"definition": "A form of Alport syndrome, a syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ",
"keywords": "KW-0023:Alport syndrome.; KW-0209:Deafness.; "
},
{
"identifier": "Zinc deficiency, transient neonatal.",
"acronym": "TNZD.",
"accession": "DI-03641",
"synonyms": "Neonatal zinc deficiency due to low breast milk zinc.; ",
"cross_references": "MeSH; D008664.",
"definition": "A disorder occurring in breast-fed infants as a consequence of low milk zinc concentration in their nursing mothers, which cannot be corrected by maternal zinc supplementation. A large amount of zinc, an essential trace mineral, is required for normal growth particularly in infants, and breast milk normally contains adequate zinc to meet the requirement for infants up to 4 to 6 months of age. Zinc deficiency can lead to dermatitis, alopecia, decreased growth, and impaired immune function. The disorder shows autosomal dominant inheritance with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism, neonatal severe.",
"acronym": "NSHPT.",
"accession": "DI-02039",
"synonyms": "Neonatal severe primary hyperparathyroidism.; NHPT.; NSPH.; ",
"cross_references": "MeSH; D049950.",
"definition": "A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. ",
"keywords": null
},
{
"identifier": "Mitochondrial phosphate carrier deficiency.",
"acronym": "MPCD.",
"accession": "DI-01985",
"synonyms": "Neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Nemaline myopathy 8.",
"acronym": "NEM8.",
"accession": "DI-03802",
"synonyms": "Nemaline myopathy 8, autosomal recessive.; ",
"cross_references": "MeSH; D017696.",
"definition": "A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Congenital myopathy 24.",
"acronym": "CMYP24.",
"accession": "DI-04947",
"synonyms": "NEM11.; Nemaline myopathy 11, autosomal recessive.; ",
"cross_references": "MeSH; D017696.",
"definition": "An autosomal recessive muscular disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. Muscle biopsy shows nemaline bodies. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Mullegama-Klein-Martinez syndrome.",
"acronym": "MKMS.",
"accession": "DI-05502",
"synonyms": "NEDXCF.; Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. ",
"keywords": null
},
{
"identifier": "Halperin-Birk syndrome.",
"acronym": "HLBKS.",
"accession": "DI-05697",
"synonyms": "NEDSOSB.; Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures.",
"acronym": "IDDBCS.",
"accession": "DI-05723",
"synonyms": "NEDMS.; Neurodevelopmental disorder with macrocephaly and with or without seizures.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit-hyperactivity disorder. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Houge-Janssens syndrome 3.",
"acronym": "HJS3.",
"accession": "DI-05507",
"synonyms": "NEDLBA.; Neurodevelopmental disorder and language delay with or without structural brain abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay with onset in infancy and additional variable features including hypotonia, epilepsy, brain abnormalities such as ventriculomegaly and a small corpus callosum, and autism spectrum disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Baker-Gordon syndrome.",
"acronym": "BAGOS.",
"accession": "DI-05432",
"synonyms": "NEDIMAE.; Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation. ",
"keywords": null
},
{
"identifier": "Heart and brain malformation syndrome.",
"acronym": "HBMS.",
"accession": "DI-04734",
"synonyms": "NEDHBM.; Neurodevelopmental disorder with heart and brain malformations.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy- Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism. ",
"keywords": null
},
{
"identifier": "Birk-Aharoni syndrome.",
"acronym": "BKAH.",
"accession": "DI-06522",
"synonyms": "NEDGTH.; Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by failure to thrive, severe developmental delay, intellectual disability, spastic tetraplegia with central hypotonia, chorea, hearing loss, micropenis and undescended testes, as well as mild elevation of liver enzymes. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Hijazi-Reis syndrome.",
"acronym": "HIJRS.",
"accession": "DI-06575",
"synonyms": "NEDGFAX.; Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked.; ",
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by hypotonia, abnormal gait, developmental delay, intellectual disability especially affecting expressive language, and autistic behavior. Additional features include facial dysmorphism,ocular anomalies, and gastrointestinal issues. Rare patients have seizures. Disease severity is variable. Males tend to be more severely affected than females. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Stolerman neurodevelopmental syndrome.",
"acronym": "NEDSST.",
"accession": "DI-05608",
"synonyms": "NEDCFSA.; Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, variable intellectual disability, poor language acquisition, and dysmorphic facial features including a prominent nasal bridge and coarse features. Some patients manifest autism spectrum disorder. Musculoskeletal features may be present and include widened and thickened hands and fingers, joint hypermobility, clinodactyly of the fifth fingers, and toe syndactyly. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}