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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4580&ordering=-synonyms",
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"results": [
{
"identifier": "Spinal muscular atrophy with progressive myoclonic epilepsy.",
"acronym": "SMAPME.",
"accession": "DI-03504",
"synonyms": "Hereditary myoclonus with progressive distal muscular atrophy.; ",
"cross_references": "MeSH; D020191.",
"definition": "An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "White sponge nevus 1.",
"acronym": "WSN1.",
"accession": "DI-02420",
"synonyms": "Hereditary mucosal leukokeratosis.; White sponge nevus of Cannon.; ",
"cross_references": "MeSH; D053529.",
"definition": "A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. ",
"keywords": null
},
{
"identifier": "Neuropathy, hereditary motor and sensory, Okinawa type.",
"acronym": "HMSNO.",
"accession": "DI-03525",
"synonyms": "Hereditary motor and sensory neuropathy, proximal type.; Hereditary motor and sensory neuropathy Okinawa.; HMSNP.; ",
"cross_references": "MeSH; D015417.",
"definition": "A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Refsum disease.",
"acronym": "RD.",
"accession": "DI-00966",
"synonyms": "Hereditary motor and sensory neuropathy IV.; Heredopathia atactica polyneuritiformis.; HMSN4.; HMSN IV.; Phytanic acid oxidase deficiency.; Refsum's disease.; ",
"cross_references": "MeSH; D012035.",
"definition": "A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment. ",
"keywords": "KW-0209:Deafness.; KW-0682:Retinitis pigmentosa.; KW-0898:Cataract.; KW-0958:Peroxisome biogenesis disorder.; KW-0977:Ichthyosis.; "
},
{
"identifier": "Lymphatic malformation 4.",
"acronym": "LMPHM4.",
"accession": "DI-04160",
"synonyms": "Hereditary lymphedema ID.; LMPH1D.; Lymphedema, hereditary, 1D.; ",
"cross_references": "MeSH; D008209.",
"definition": "A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM4 is an autosomal dominant form with onset at birth or in early childhood. Affected individuals manifest lymphedema of lower limbs with prominent veins, and impaired lymphatic uptake and drainage. Additional features are nail dysplasia, skin hyperkeratosis and papillomatosis. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant 1, with or without thrombocytopenia.",
"acronym": "DFNA1.",
"accession": "DI-00831",
"synonyms": "Hereditary low-frequency hearing loss.; Hereditary low-frequency sensorineural hearing loss.; Konigsmark syndrome.; LFHL1.; LFSNHL1.; Non-syndromic neurosensory deafness autosomal dominant type 1.; Non-syndromic sensorineural deafness autosomal dominant type 1.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Iron-refractory iron deficiency anemia.",
"acronym": "IRIDA.",
"accession": "DI-01834",
"synonyms": "Hereditary iron-handling disorder.; Hypochromic microcytic anemia with defect in iron metabolism.; Pseudo-iron-deficiency anemia.; ",
"cross_references": "MedGen; C0085576.",
"definition": "Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. ",
"keywords": null
},
{
"identifier": "Telangiectasia, hereditary hemorrhagic, 1.",
"acronym": "HHT1.",
"accession": "DI-01716",
"synonyms": "Hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber.; ORW1.; ORW disease.; Osler-Rendu-Weber syndrome.; Osler-Rendu-Weber syndrome 1.; ",
"cross_references": "MeSH; D013683.",
"definition": "A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. ",
"keywords": null
},
{
"identifier": "Chorea, hereditary benign.",
"acronym": "BHC.",
"accession": "DI-01272",
"synonyms": "Hereditary chorea without dementia.; ",
"cross_references": "MeSH; D002819.",
"definition": "A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. ",
"keywords": null
},
{
"identifier": "Hereditary neuralgic amyotrophy.",
"acronym": "HNA.",
"accession": "DI-01728",
"synonyms": "Hereditary brachial plexus neuropathy.; Hereditary neuralgic amyotrophy with predilection for brachial plexus.; NAPB.; Neuritis with brachial predilection.; ",
"cross_references": "MedGen; C1834304.",
"definition": "Autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. HNA is triggered by environmental factors such as infection or parturition. ",
"keywords": null
},
{
"identifier": "Adrenocortical carcinoma.",
"acronym": "ADCC.",
"accession": "DI-02740",
"synonyms": "Hereditary adrenocortical carcinoma.; Pediatric adrenocortical carcinoma.; ",
"cross_references": "MeSH; D018268.",
"definition": "A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome. ",
"keywords": null
},
{
"identifier": "Wilson disease.",
"acronym": "WD.",
"accession": "DI-01146",
"synonyms": "Hepatolenticular degeneration.; ",
"cross_references": "MeSH; D006527.",
"definition": "An autosomal recessive disorder of copper metabolism in which copper cannot be incorporated into ceruloplasmin in liver, and cannot be excreted from the liver into the bile. Copper accumulates in the liver and subsequently in the brain and kidney. The disease is characterized by neurologic manifestations and signs of cirrhosis. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 1.",
"acronym": "COXPD1.",
"accession": "DI-01364",
"synonyms": "Hepatoencephalopathy early fatal progressive.; ",
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial DNA depletion syndrome 3.",
"acronym": "MTDPS3.",
"accession": "DI-01709",
"synonyms": "Hepatocerebral mitochondrial DNA deletions syndrome autosomal recessive.; Mitochondrial DNA depletion syndrome 3 hepatocerebral type.; ",
"cross_references": "MeSH; D017237.",
"definition": "A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion. ",
"keywords": "KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Hepatocellular carcinoma.",
"acronym": "HCC.",
"accession": "DI-01708",
"synonyms": "Hepatocellular cancer.; Hepatoma.; LCC.; Liver cancer.; Liver cell carcinoma.; ",
"cross_references": "MeSH; D006528.",
"definition": "A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. ",
"keywords": null
},
{
"identifier": "Non-alcoholic fatty liver disease 1.",
"acronym": "NAFLD1.",
"accession": "DI-02071",
"synonyms": "Hepatic steatosis.; ",
"cross_references": "MeSH; D005234.",
"definition": "A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. ",
"keywords": null
},
{
"identifier": "Thrombophilia due to heparin cofactor 2 deficiency.",
"acronym": "THPH10.",
"accession": "DI-00541",
"synonyms": "Heparin cofactor II deficiency.; ",
"cross_references": "MeSH; D019851.",
"definition": "A hemostatic disorder characterized by a tendency to recurrent thrombosis. ",
"keywords": "KW-0792:Thrombophilia.; "
},
{
"identifier": "Mucopolysaccharidosis 3A.",
"acronym": "MPS3A.",
"accession": "DI-00774",
"synonyms": "Heparan sulfate sulfatase deficiency.; MPS IIIA.; Mucopolysaccharidosis type IIIA.; Sanfilippo syndrome A.; Sulfamidase deficiency.; ",
"cross_references": "MeSH; D009084.",
"definition": "A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. ",
"keywords": "KW-0510:Mucopolysaccharidosis.; "
},
{
"identifier": "Intracerebral hemorrhage.",
"acronym": "ICH.",
"accession": "DI-03406",
"synonyms": "Hemorrhagic stroke.; ",
"cross_references": "MeSH; D002543.",
"definition": "A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. ",
"keywords": null
},
{
"identifier": "Triosephosphate isomerase deficiency.",
"acronym": "TPID.",
"accession": "DI-02390",
"synonyms": "Hemolytic anemia due to triosephosphate isomerase deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
}
]
}