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{
"identifier": "Cardiomyopathy, dilated, 1KK.",
"acronym": "CMD1KK.",
"accession": "DI-03730",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1JJ.",
"acronym": "CMD1JJ.",
"accession": "DI-03729",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Encephalopathy, progressive, with amyotrophy and optic atrophy.",
"acronym": "PEAMO.",
"accession": "DI-04873",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1II.",
"acronym": "CMD1II.",
"accession": "DI-03750",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Encephalitis, acute, infection (viral)-induced, 11.",
"acronym": "IIAE11.",
"accession": "DI-06170",
"synonyms": null,
"cross_references": "MeSH; D018792.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1I.",
"acronym": "CMD1I.",
"accession": "DI-00216",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization.",
"acronym": "MMERV.",
"accession": "DI-05330",
"synonyms": null,
"cross_references": "MeSH; D004660.",
"definition": "An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. ",
"keywords": null
},
{
"identifier": "Encephalocraniocutaneous lipomatosis.",
"acronym": "ECCL.",
"accession": "DI-04665",
"synonyms": null,
"cross_references": "MeSH; D020752.",
"definition": "A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present. ",
"keywords": null
},
{
"identifier": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2.",
"acronym": "EMPF2.",
"accession": "DI-04810",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1HH.",
"acronym": "CMD1HH.",
"accession": "DI-03042",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Encephalopathy, acute, infection-induced, 9.",
"acronym": "IIAE9.",
"accession": "DI-05581",
"synonyms": null,
"cross_references": "MeSH; D004684.",
"definition": "An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. ",
"keywords": null
},
{
"identifier": "Encephalopathy, neonatal severe, due to MECP2 mutations.",
"acronym": "ENS-MECP2.",
"accession": "DI-02038",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. ",
"keywords": null
},
{
"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": "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
}
]
}