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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2260&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency 81.",
"acronym": "IMD81.",
"accession": "DI-06140",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by recurrent infections, including fungal infections, associated with T cell, neutrophil, and NK cell dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation. ",
"keywords": null
},
{
"identifier": "Erythropoietic protoporphyria, X-linked dominant.",
"acronym": "XLDPT.",
"accession": "DI-00485",
"synonyms": null,
"cross_references": "MeSH; D046351.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. ",
"keywords": null
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 3.",
"acronym": "ENFL3.",
"accession": "DI-00820",
"synonyms": null,
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Birk-Barel syndrome.",
"acronym": "BIBARS.",
"accession": "DI-02513",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Growth hormone deficiency with pituitary anomalies.",
"acronym": "GHDPA.",
"accession": "DI-02581",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. ",
"keywords": null
},
{
"identifier": "Epilepsy, progressive myoclonic 11.",
"acronym": "EPM11.",
"accession": "DI-05834",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 12.",
"acronym": "EPM12.",
"accession": "DI-06052",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM12 is an autosomal recessive form characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Affected individuals develop cerebellar ataxia associated with progressive cerebral and cerebellar atrophy on brain imaging. Most patients lose ambulation and become wheelchair-bound. Additional more variable features include mild cognitive dysfunction or psychiatric manifestations, such as depression or anxiety. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 1B.",
"acronym": "EPM1B.",
"accession": "DI-00953",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM1B is an autosomal recessive form characterized by myoclonus that progressed in severity over time, tonic-clonic seizures and ataxia. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 34.",
"acronym": "CILD34.",
"accession": "DI-04822",
"synonyms": null,
"cross_references": "MeSH; D007619.",
"definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Hypotrichosis 14.",
"acronym": "HYPT14.",
"accession": "DI-05448",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 6.",
"acronym": "EPM6.",
"accession": "DI-03161",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 7.",
"acronym": "EPM7.",
"accession": "DI-04310",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, progressive myoclonic 8.",
"acronym": "EPM8.",
"accession": "DI-04341",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM8 is an autosomal recessive form characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Facial paresis, hereditary congenital, 3.",
"acronym": "HCFP3.",
"accession": "DI-03507",
"synonyms": null,
"cross_references": "MeSH; D005158.",
"definition": "A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus. ",
"keywords": null
},
{
"identifier": "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features.",
"acronym": "EPILX2.",
"accession": "DI-06540",
"synonyms": null,
"cross_references": "MeSH; D004827.",
"definition": "A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 1.",
"acronym": "IECEE1.",
"accession": "DI-05114",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 2.",
"acronym": "IECEE2.",
"accession": "DI-05174",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 3.",
"acronym": "IECEE3.",
"accession": "DI-05273",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non- ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epiphyseal chondrodysplasia, Miura type.",
"acronym": "ECDM.",
"accession": "DI-04178",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with or without variable brain abnormalities.",
"acronym": "NEDBA.",
"accession": "DI-05574",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and variable brain anomalies including perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum. ",
"keywords": "KW-0991:Intellectual disability.; "
}
]
}