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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5300&ordering=synonyms",
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"results": [
{
"identifier": "Brittle cornea syndrome 2.",
"acronym": "BCS2.",
"accession": "DI-03176",
"synonyms": null,
"cross_references": "MeSH; D004535.",
"definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ",
"keywords": null
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.",
"acronym": "FTDALS2.",
"accession": "DI-04163",
"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": "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": "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": "Breast-ovarian cancer, familial, 5.",
"acronym": "BROVCA5.",
"accession": "DI-06717",
"synonyms": null,
"cross_references": "MeSH; D010051.",
"definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ",
"keywords": null
},
{
"identifier": "Breast cancer, lobular.",
"acronym": "LBC.",
"accession": "DI-03803",
"synonyms": null,
"cross_references": "MeSH; D001943.",
"definition": "A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. ",
"keywords": null
},
{
"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": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.",
"acronym": "BCAHH.",
"accession": "DI-06584",
"synonyms": null,
"cross_references": "MeSH; D003409.",
"definition": "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature. ",
"keywords": "KW-0209:Deafness.; KW-0984:Congenital hypothyroidism.; "
},
{
"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": "Branched-chain ketoacid dehydrogenase kinase deficiency.",
"acronym": "BCKDKD.",
"accession": "DI-03567",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1269:Autism.; "
},
{
"identifier": "Brain small vessel disease 3.",
"acronym": "BSVD3.",
"accession": "DI-05511",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. ",
"keywords": null
},
{
"identifier": "Gallbladder disease 4.",
"acronym": "GBD4.",
"accession": "DI-02886",
"synonyms": null,
"cross_references": "MeSH; D005705.",
"definition": "One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. ",
"keywords": null
},
{
"identifier": "Galloway-Mowat syndrome 10.",
"acronym": "GAMOS10.",
"accession": "DI-06184",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS10 is an autosomal recessive form with fatal outcome. Patients manifest congenital hypothyroidism in addition to neurologic, renal and dysmorphic features. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Galloway-Mowat syndrome 2, X-linked.",
"acronym": "GAMOS2.",
"accession": "DI-05105",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Galloway-Mowat syndrome 3.",
"acronym": "GAMOS3.",
"accession": "DI-05106",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}