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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2440&ordering=-synonyms",
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"results": [
{
"identifier": "Intellectual developmental disorder with impaired language and dysmorphic facies.",
"acronym": "IDDILF.",
"accession": "DI-05699",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 8.",
"acronym": "HHF8.",
"accession": "DI-06591",
"synonyms": null,
"cross_references": "MeSH; D007003.",
"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. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked 113.",
"acronym": "XLID113.",
"accession": "DI-06838",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by mild intellectual disability, and developmental delay mainly affecting verbal and non-verbal communication skills. Motor development is normal. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities.",
"acronym": "MRD50.",
"accession": "DI-05151",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Fragile X tremor/ataxia syndrome.",
"acronym": "FXTAS.",
"accession": "DI-01626",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "An X-linked neurodegenerative disorder characterized by late-onset, progressive cerebellar ataxia and intention tremor followed by cognitive decline. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Glioma 2.",
"acronym": "GLM2.",
"accession": "DI-02567",
"synonyms": null,
"cross_references": "MeSH; D005910.",
"definition": "Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 1.",
"acronym": "FRASRS1.",
"accession": "DI-01627",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 2.",
"acronym": "FRASRS2.",
"accession": "DI-05098",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Fraser syndrome 3.",
"acronym": "FRASRS3.",
"accession": "DI-05099",
"synonyms": null,
"cross_references": "MeSH; D058497.",
"definition": "A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. ",
"keywords": null
},
{
"identifier": "Frasier syndrome.",
"acronym": "FS.",
"accession": "DI-01628",
"synonyms": null,
"cross_references": "MedGen; C0950122.",
"definition": "Characterized by a slowly progressing nephropathy leading to renal failure in adolescence or early adulthood, male pseudohermaphroditism, and no Wilms tumor. As for histological findings of the kidneys, focal glomerular sclerosis is often observed. There is phenotypic overlap with Denys-Drash syndrome. Inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Acrodermatitis enteropathica, zinc-deficiency type.",
"acronym": "AEZ.",
"accession": "DI-00027",
"synonyms": null,
"cross_references": "MeSH; D000169.",
"definition": "A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune- system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with paroxysmal dyskinesia or seizures.",
"acronym": "IDDPADS.",
"accession": "DI-06007",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early- onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Combined deficiency of vitamin K-dependent clotting factors 2.",
"acronym": "VKCFD2.",
"accession": "DI-01362",
"synonyms": null,
"cross_references": "MedGen; C1843832.",
"definition": "VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. ",
"keywords": null
},
{
"identifier": "Frontometaphyseal dysplasia 2.",
"acronym": "FMD2.",
"accession": "DI-04852",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "A form of frontometaphyseal dysplasia, a progressive sclerosing skeletal dysplasia affecting the long bones and skull. Characteristic features include supraorbital hyperostosis, cranial hyperostosis, undermodeling of the small bones, flared metaphyses, and digital anomalies. Extra-skeletal manifestations include hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. FMD2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.",
"acronym": "CIMAH.",
"accession": "DI-05147",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, and lymphopenia. ",
"keywords": null
},
{
"identifier": "Frontonasal dysplasia 2.",
"acronym": "FND2.",
"accession": "DI-02709",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. ",
"keywords": null
},
{
"identifier": "Frontonasal dysplasia 3.",
"acronym": "FND3.",
"accession": "DI-02710",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. ",
"keywords": null
},
{
"identifier": "Combined lipase deficiency.",
"acronym": "CLD.",
"accession": "DI-01363",
"synonyms": null,
"cross_references": "MedGen; C1855498.",
"definition": "Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL). ",
"keywords": null
},
{
"identifier": "Combined low LDL and fibrinogen.",
"acronym": "CLDLFIB.",
"accession": "DI-06676",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive condition characterized by low plasma LDL- cholesterol and fibrinogen levels, and associated with a decreased risk of coronary artery disease. ",
"keywords": null
},
{
"identifier": "Peroxisomal fatty acyl-CoA reductase 1 disorder.",
"acronym": "PFCRD.",
"accession": "DI-04305",
"synonyms": null,
"cross_references": "MeSH; D018901.",
"definition": "An autosomal recessive metabolic disorder clinically characterized by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity. ",
"keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "
}
]
}