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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2160&ordering=-synonyms",
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"results": [
{
"identifier": "Cholestasis, progressive familial intrahepatic, 6.",
"acronym": "PFIC6.",
"accession": "DI-06201",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Encephalopathy, porphyria-related.",
"acronym": "ENCEP.",
"accession": "DI-06842",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive disorder characterized by rapidly progressive neurologic abnormalities apparent in early infancy. Clinical features include global developmental delay, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of porphyrin precursors. Death in childhood may occur. ",
"keywords": null
},
{
"identifier": "Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.",
"acronym": "PEBAS.",
"accession": "DI-05100",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive, progressive encephalopathy characterized by central nervous system atrophy and dysfunction, spasticity, microcephaly, global developmental delay, and hearing loss. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum.",
"acronym": "PEBAT.",
"accession": "DI-04876",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1.",
"acronym": "PEBEL1.",
"accession": "DI-04879",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.",
"acronym": "PEBEL2.",
"accession": "DI-05478",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Encephalopathy, progressive, with or without lipodystrophy.",
"acronym": "PELD.",
"accession": "DI-04174",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 9.",
"acronym": "PFIC9.",
"accession": "DI-06404",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in infancy or early childhood. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Endocrine-cerebroosteodysplasia.",
"acronym": "ECO.",
"accession": "DI-01525",
"synonyms": null,
"cross_references": "MedGen; C2675227.",
"definition": "Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. ",
"keywords": null
},
{
"identifier": "Endometrial cancer.",
"acronym": "ENDMC.",
"accession": "DI-01526",
"synonyms": null,
"cross_references": "MeSH; D016889.",
"definition": "A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 16.",
"acronym": "BBS16.",
"accession": "DI-04258",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 71.",
"acronym": "MRT71.",
"accession": "DI-05617",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 28.",
"acronym": "ALS28.",
"accession": "DI-06733",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Enhanced S cone syndrome.",
"acronym": "ESCS.",
"accession": "DI-01527",
"synonyms": null,
"cross_references": "MedGen; C1849394.",
"definition": "Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. ",
"keywords": null
},
{
"identifier": "Chondrodysplasia Blomstrand type.",
"acronym": "BOCD.",
"accession": "DI-01343",
"synonyms": null,
"cross_references": "MedGen; C1859148.",
"definition": "Severe skeletal dysplasia. ",
"keywords": null
},
{
"identifier": "Infantile liver failure syndrome 1.",
"acronym": "ILFS1.",
"accession": "DI-03895",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ",
"keywords": null
},
{
"identifier": "Epidermodysplasia verruciformis 1.",
"acronym": "EV1.",
"accession": "DI-01531",
"synonyms": null,
"cross_references": "MeSH; D004819.",
"definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Epidermodysplasia verruciformis 2.",
"acronym": "EV2.",
"accession": "DI-05436",
"synonyms": null,
"cross_references": "MeSH; D004819.",
"definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Epidermodysplasia verruciformis 3.",
"acronym": "EV3.",
"accession": "DI-05446",
"synonyms": null,
"cross_references": "MeSH; D004819.",
"definition": "A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity.",
"acronym": "NEDBASS.",
"accession": "DI-05846",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, brain abnormalities, mainly ventriculomegaly and/or brain atrophy, intellectual disability, absent speech, peripheral spasticity, and microcephaly. Additional variable features include early-onset seizures, optic atrophy, and dysmorphic facial features. Early death may occur. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}