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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2460&ordering=-synonyms",
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"results": [
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.",
"acronym": "FTDALS3.",
"accession": "DI-04471",
"synonyms": null,
"cross_references": "MeSH; D057174.",
"definition": "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients may also develop Paget disease of bone. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.",
"acronym": "FTDALS4.",
"accession": "DI-04472",
"synonyms": null,
"cross_references": "MeSH; D057174.",
"definition": "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1.",
"acronym": "OIEDS1.",
"accession": "DI-05986",
"synonyms": null,
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 5.",
"acronym": "FTDALS5.",
"accession": "DI-06001",
"synonyms": null,
"cross_references": "MeSH; D057174.",
"definition": "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal dominant form with age-dependent penetrance. Penetrance is estimated to be 50% by age 56 and 100% by age 61. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2.",
"acronym": "OIEDS2.",
"accession": "DI-05987",
"synonyms": null,
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Intellectual developmental disorder, X-linked 110.",
"acronym": "XLID110.",
"accession": "DI-06576",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"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": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 8.",
"acronym": "FTDALS8.",
"accession": "DI-06000",
"synonyms": null,
"cross_references": "MeSH; D057174.",
"definition": "A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS8 is an autosomal dominant form. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Fructose-1,6-bisphosphatase deficiency.",
"acronym": "FBP1D.",
"accession": "DI-01634",
"synonyms": null,
"cross_references": "MeSH; D015319.",
"definition": "An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, and episodes of hypoglycemia and metabolic acidosis that can be lethal in newborn infants or young children. ",
"keywords": null
},
{
"identifier": "Fructosuria.",
"acronym": "FRUCT.",
"accession": "DI-01635",
"synonyms": null,
"cross_references": "MedGen; C0268160.",
"definition": "Benign defect of intermediary metabolism. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 45.",
"acronym": "MRD45.",
"accession": "DI-05061",
"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. MRD45 patients manifest developmental delay, variable intellectual disability, and behavioral disorders, including autistic features, attention deficit, and hyperactivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Macular degeneration, age-related, 4.",
"acronym": "ARMD4.",
"accession": "DI-00058",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ",
"keywords": "KW-0913:Age-related macular degeneration.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 22.",
"acronym": "HLD22.",
"accession": "DI-06111",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Hyperprolactinemia.",
"acronym": "HPRL.",
"accession": "DI-03975",
"synonyms": null,
"cross_references": "MeSH; D006966.",
"definition": "A disorder characterized by increased levels of prolactin in the blood not associated with gestation or the puerperium. HPRL may result in infertility, hypogonadism, and galactorrhea. ",
"keywords": null
},
{
"identifier": "Fundus flavimaculatus.",
"acronym": "FFM.",
"accession": "DI-01640",
"synonyms": null,
"cross_references": "MedGen; C1858080.",
"definition": "Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. ",
"keywords": null
},
{
"identifier": "GABA-transaminase deficiency.",
"acronym": "GABATD.",
"accession": "DI-01641",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Gabriele-de Vries syndrome.",
"acronym": "GADEVS.",
"accession": "DI-05032",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 15.",
"acronym": "COXPD15.",
"accession": "DI-03631",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Aicardi-Goutieres syndrome 7.",
"acronym": "AGS7.",
"accession": "DI-04126",
"synonyms": null,
"cross_references": "MeSH; D020274.",
"definition": "A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. ",
"keywords": "KW-0948:Aicardi-Goutieres syndrome.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 16.",
"acronym": "COXPD16.",
"accession": "DI-03874",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Pituitary adenoma 3, multiple types.",
"acronym": "PITA3.",
"accession": "DI-05088",
"synonyms": null,
"cross_references": "MeSH; D010911.",
"definition": "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. ",
"keywords": null
}
]
}