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"count": 6723,
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"results": [
{
"identifier": "Frontometaphyseal dysplasia 1.",
"acronym": "FMD1.",
"accession": "DI-01631",
"synonyms": "FMD.; ",
"cross_references": "MeSH; D010009.",
"definition": "An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects. ",
"keywords": "KW-0209:Deafness.; "
},
{
"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": "Frontonasal dysplasia 1.",
"acronym": "FND1.",
"accession": "DI-02575",
"synonyms": "FND.; FNM.; Frontonasal dysplasia.; Frontonasal malformation.; Frontorhiny.; Median cleft syndrome.; ",
"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 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": "Frontotemporal dementia.",
"acronym": "FTD.",
"accession": "DI-01632",
"synonyms": "DDPAC.; Disinhibition-dementia-parkinsonism-amyotrophy complex.; FLDEM.; Frontotemporal dementia-amyotrophic lateral sclerosis.; Frontotemporal dementia and parkinsonism linked to chromosome 17.; Frontotemporal dementia with parkinsonism.; Frontotemporal lobar degeneration.; Frontotemporal lobar degeneration with TAU inclusions.; Frontotemporal lobe dementia.; FTD-ALS.; FTDP17.; FTLD.; FTLD with TAU inclusions.; MSTD.; Multiple system tauopathy with presenile dementia.; Pallidopontonigral degeneration.; Pick complex.; PPND.; Wilhelmsen-Lynch disease.; WLD.; ",
"cross_references": "MeSH; D057180.",
"definition": "A form of dementia characterized by pathologic finding of frontotemporal lobar degeneration, presenile dementia with behavioral changes, deterioration of cognitive capacities and loss of memory. In some cases, parkinsonian symptoms are prominent. Neuropathological changes include frontotemporal atrophy often associated with atrophy of the basal ganglia, substantia nigra, amygdala. In most cases, protein tau deposits are found in glial cells and/or neurons. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 1.",
"acronym": "FTDALS1.",
"accession": "DI-03247",
"synonyms": "ALSFTD.; Amyotrophic lateral sclerosis and/or frontotemporal dementia.; Frontotemporal dementia and/or motor neuron disease.; FTDMND.; ",
"cross_references": "MeSH; D057174.",
"definition": "An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. 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 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": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 6.",
"acronym": "FTDALS6.",
"accession": "DI-03119",
"synonyms": "ALS14.; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia.; ",
"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 (FTD) 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 (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS6 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. Some patients with the disorder may have features of both diseases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 7.",
"acronym": "FTDALS7.",
"accession": "DI-01633",
"synonyms": "ALS17.; Amyotrophic lateral sclerosis, CHMP2B-related.; Amyotrophic lateral sclerosis 17.; Frontotemporal dementia, chromosome 3-linked.; FTD3.; ",
"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 (FTD) 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 (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS7 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. A few patients may have both phenotypes. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"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": "Fucosidosis.",
"acronym": "FUCA1D.",
"accession": "DI-00501",
"synonyms": "Alpha-L-fucosidase deficiency.; ",
"cross_references": "MeSH; D005645.",
"definition": "An autosomal recessive lysosomal storage disease characterized by accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. ",
"keywords": null
},
{
"identifier": "Fuhrmann syndrome.",
"acronym": "FUHRS.",
"accession": "DI-01637",
"synonyms": "Fibular aplasia.; Hypoplasia femoral bowing and poly- syn- and oligodactyly.; ",
"cross_references": "MedGen; C1856728.",
"definition": "Distinct limb-malformation disorder characterized also by various degrees of limb aplasia/hypoplasia and joint dysplasia. ",
"keywords": null
},
{
"identifier": "Fumarase deficiency.",
"acronym": "FMRD.",
"accession": "DI-01638",
"synonyms": "Fumaric aciduria.; ",
"cross_references": "MeSH; D011596.",
"definition": "A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy. ",
"keywords": null
},
{
"identifier": "Fundus albipunctatus.",
"acronym": "FALBI.",
"accession": "DI-04584",
"synonyms": "FA.; ",
"cross_references": "MeSH; D012164.",
"definition": "A form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
}
]
}