HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=360&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=320&ordering=synonyms",
"results": [
{
"identifier": "Amyloidosis, hereditary systemic 1.",
"acronym": "AMYLD1.",
"accession": "DI-00100",
"synonyms": "Amyloidosis, transthyretin-related.; Amyloidosis I.; Amyloidosis Ohio type.; Amyloidosis type 7.; Amyloidosis VII.; Amyloid polyneuropathy.; ATTR.; Familial amyloid polyneuropathy.; Familial amyloid polyneuropathy type I.; Familial amyloid polyneuropathy type II.; FAP.; Hereditary amyloidosis transthyretin-related.; Leptomeningeal amyloidosis.; Meningocerebrovascular amyloidosis.; Oculoleptomeningeal amyloidosis.; Transthyretin amyloid neuropathy.; Transthyretin amyloidosis.; Transthyretin amyloid polyneuropathy.; TTR amyloid neuropathy.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD1 is an autosomal dominant form due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Glycogen storage disease 4.",
"acronym": "GSD4.",
"accession": "DI-00524",
"synonyms": "Amylopectinosis.; Andersen disease.; GBE1 deficiency.; Glycogen branching enzyme deficiency.; Glycogenosis IV.; Glycogen storage disease IV.; GSD IV.; GSD-IV.; ",
"cross_references": "MeSH; D006011.",
"definition": "A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 10.",
"acronym": "ALS10.",
"accession": "DI-00114",
"synonyms": "Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions.; ",
"cross_references": "MeSH; D000690.",
"definition": "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. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 4.",
"acronym": "ALS4.",
"accession": "DI-00110",
"synonyms": "Amyotrophic lateral sclerosis juvenile 4.; Neuronopathy distal hereditary motor with pyramidal features.; ",
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis with childhood- or adolescent- onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is 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. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Parkinson disease 7.",
"acronym": "PARK7.",
"accession": "DI-01240",
"synonyms": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex type 2.; Autosomal recessive early-onset Parkinson disease type 7.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease). ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Scapuloperoneal spinal muscular atrophy.",
"acronym": "SPSMA.",
"accession": "DI-02689",
"synonyms": "Amyotrophy neurogenic scapuloperoneal New England type.; ",
"cross_references": "MeSH; D009134.",
"definition": "A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Tangier disease.",
"acronym": "TGD.",
"accession": "DI-01742",
"synonyms": "Analphalipoproteinemia.; HDLD1.; High density lipoprotein deficiency, Tangier Type.; High density lipoprotein deficiency 1.; ",
"cross_references": "MeSH; D013631.",
"definition": "An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy. ",
"keywords": null
},
{
"identifier": "Aniridia 1.",
"acronym": "AN1.",
"accession": "DI-01184",
"synonyms": "AN.; AN2.; Aniridia type II.; ",
"cross_references": "MeSH; D015783.",
"definition": "A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ",
"keywords": null
},
{
"identifier": "Cylindromatosis, familial.",
"acronym": "FCYL.",
"accession": "DI-01564",
"synonyms": "Ancell-Spiegler cylindromas.; Dermal eccrine cylindromatosis.; Turban tumor syndrome.; ",
"cross_references": "MeSH; D012878.",
"definition": "A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles. ",
"keywords": null
},
{
"identifier": "Chylomicron retention disease.",
"acronym": "CMRD.",
"accession": "DI-00308",
"synonyms": "ANDD.; Anderson disease.; Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells.; Lipid transport defect of intestine.; ",
"cross_references": "MeSH; D008286.",
"definition": "An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. ",
"keywords": null
},
{
"identifier": "Agenesis of the corpus callosum, with peripheral neuropathy.",
"acronym": "ACCPN.",
"accession": "DI-00054",
"synonyms": "Andermann's syndrome.; Andermann syndrome.; Charlevoix disease.; Corpus callosum, agenesis of, with neuronopathy.; Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum.; ",
"cross_references": "MeSH; D009421.",
"definition": "A disease that is characterized by severe progressive sensorimotor neuropathy, intellectual disability, dysmorphic features and complete or partial agenesis of the corpus callosum. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Long QT syndrome 7.",
"acronym": "LQT7.",
"accession": "DI-00685",
"synonyms": "Andersen cardiodysrhythmic periodic paralysis.; Andersen syndrome.; Andersen-Tawil syndrome.; ATS.; Periodic paralysis, potassium-sensitive cardiodysrhythmic type.; ",
"cross_references": "MeSH; D050030.",
"definition": "A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features. ",
"keywords": "KW-0454:Long QT syndrome.; "
},
{
"identifier": "Androgen insensitivity, partial.",
"acronym": "PAIS.",
"accession": "DI-00117",
"synonyms": "Androgen insensitivity partial with or without breast cancer.; Familial incomplete male pseudohermaphroditism, type 1.; Reifenstein syndrome.; ",
"cross_references": "MeSH; D013734.",
"definition": "A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Androgen insensitivity syndrome.",
"acronym": "AIS.",
"accession": "DI-00116",
"synonyms": "Androgen receptor deficiency.; Androgen resistance syndrome.; AR deficiency.; CAIS.; Complete androgen insensitivity syndrome.; DHTR deficiency.; Dihydrotestosterone receptor deficiency.; Testicular feminization syndrome.; TFM.; ",
"cross_references": "MeSH; D013734.",
"definition": "An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype. ",
"keywords": "KW-0657:Pseudohermaphroditism.; "
},
{
"identifier": "Encephalopathy, acute, infection-induced, 3.",
"acronym": "IIAE3.",
"accession": "DI-01172",
"synonyms": "ANE1.; Encephalopathy, acute necrotizing, 1.; Encephalopathy acute infection-induced 3.; ",
"cross_references": "MeSH; D004684.",
"definition": "A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem. ",
"keywords": null
},
{
"identifier": "Encephalitis, acute, infection-induced, 12.",
"acronym": "IIAE12.",
"accession": "DI-06739",
"synonyms": "ANE2.; Encephalopathy, acute, infection-induced, 12.; Encephalopathy, acute necrotizing 2.; ",
"cross_references": "MeSH; D018792.",
"definition": "An autosomal recessive disorder apparent in infancy or early childhood, and characterized by acute encephalopathy triggered by viral infections and febrile illness. Neurologic features of the acute episodes include seizures, hemiplegia, decreased consciousness, hypotonia, abnormal posturing, feeding problems, and respiratory insufficiency. Disease severity is variable, ranging from death to normal neurologic outcomes. ",
"keywords": null
},
{
"identifier": "Anemia, congenital dyserythropoietic, 3A.",
"acronym": "CDAN3A.",
"accession": "DI-06363",
"synonyms": "Anemia, congenital dyserythropoietic, type III.; Anemia, congenital dyserythropoietic, type IIIA.; Anemia with multinucleated erythroblasts erythroreticulosis, hereditary benign.; CDA, type IIIA.; CDAN3.; Dyserythropoietic anemia, congenital, type IIIA.; ",
"cross_references": "MeSH; D000742.",
"definition": "An autosomal dominant blood disorder characterized by ineffective erythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. ",
"keywords": "KW-1055:Congenital dyserythropoietic anemia.; "
},
{
"identifier": "Anemia, sideroblastic, 2, pyridoxine-refractory.",
"acronym": "SIDBA2.",
"accession": "DI-00119",
"synonyms": "Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive.; ",
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. ",
"keywords": null
},
{
"identifier": "Anemia, sideroblastic, 1.",
"acronym": "SIDBA1.",
"accession": "DI-00120",
"synonyms": "Anemia, sideroblastic, X-linked.; ANH1.; Hereditary iron-loading anemia.; Hereditary sideroblastic anemia.; Hypochromic anemia.; XLSA.; ",
"cross_references": "MeSH; D000756.",
"definition": "A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. ",
"keywords": null
},
{
"identifier": "Anemia without thrombocytopenia, X-linked.",
"acronym": "XLAWT.",
"accession": "DI-03055",
"synonyms": "Anemia X-linked with variable neutropenia.; ",
"cross_references": "MeSH; D000740.",
"definition": "A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals. ",
"keywords": null
}
]
}