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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3480&ordering=-synonyms",
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"results": [
{
"identifier": "Retinitis pigmentosa 41.",
"acronym": "RP41.",
"accession": "DI-00995",
"synonyms": "Retinal degeneration autosomal recessive prominin-related.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Tortuosity of retinal arteries.",
"acronym": "RATOR.",
"accession": "DI-04437",
"synonyms": "Retinal arteries, tortuosity of.; Retinal hemorrhage with vascular tortuosity.; ",
"cross_references": "MeSH; D012166.",
"definition": "A disease characterized by marked tortuosity of second- and third- order retinal arteries with normal first-order arteries and venous system. Most patients manifest variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma. ",
"keywords": null
},
{
"identifier": "Restrictive dermopathy 2.",
"acronym": "RSDM2.",
"accession": "DI-06366",
"synonyms": "Restrictive dermopathy 2 , lethal.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant form of restrictive dermopathy, a genodermatosis mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism, sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 74, COVID19-related, X-linked.",
"acronym": "IMD74.",
"accession": "DI-05889",
"synonyms": "Respiratory insufficiency due to SARS-CoV-2 viral infection.; TLR7 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive immunologic disorder characterized by impaired type I and type II interferon responses due to defective TLR7 signaling. Individuals with TLR7 deficiency develop severe respiratory insufficiency in response to infection with SARS-CoV-2 coronavirus. Death from respiratory failure may occur. ",
"keywords": null
},
{
"identifier": "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp.",
"acronym": "EPRPDC.",
"accession": "DI-05646",
"synonyms": "RE-PED-WC.; ",
"cross_references": "MeSH; D019305.",
"definition": "An autosomal recessive neurologic disorder characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood. Clinical features include involuntary movements and difficulties with fine motor skills of the hand. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hypomagnesemia 4.",
"acronym": "HOMG4.",
"accession": "DI-00579",
"synonyms": "Renal hypomagnesemia normocalciuric.; ",
"cross_references": "MeSH; D015499.",
"definition": "A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes. ",
"keywords": "KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Renal hypodysplasia/aplasia 1.",
"acronym": "RHDA1.",
"accession": "DI-02253",
"synonyms": "Renal adysplasia.; Renal agenesis.; Renal aplasia.; ",
"cross_references": "MedGen; C1619700.",
"definition": "A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. ",
"keywords": null
},
{
"identifier": "Cholestasis, benign recurrent intrahepatic, 1.",
"acronym": "BRIC1.",
"accession": "DI-00185",
"synonyms": "Recurrent familial intrahepatic cholestasis.; Summerskill syndrome.; ",
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Pregnancy loss, recurrent, 1.",
"acronym": "RPRGL1.",
"accession": "DI-03350",
"synonyms": "Recurrent embryonic loss.; Recurrent fetal loss.; Recurrent miscarriage.; Recurrent stillbirth.; RPL.; RPRGL.; Spontaneous recurrent abortion.; ",
"cross_references": "MeSH; D000026.",
"definition": "A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. ",
"keywords": null
},
{
"identifier": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2.",
"acronym": "RUSAT2.",
"accession": "DI-04632",
"synonyms": "Radioulnar synostosis and amegakaryocytic thrombocytopenia 2.; ",
"cross_references": "MeSH; D013921.",
"definition": "An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia. ",
"keywords": null
},
{
"identifier": "Riddle syndrome.",
"acronym": "RIDL.",
"accession": "DI-02269",
"synonyms": "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties.; ",
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disorder characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. ",
"keywords": null
},
{
"identifier": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.",
"acronym": "PXEL-MCFD.",
"accession": "DI-02234",
"synonyms": "PXE-like disorder with multiple coagulation factor deficiency.; ",
"cross_references": "MedGen; C1835813.",
"definition": "Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyses revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE. ",
"keywords": null
},
{
"identifier": "Spinocerebellar ataxia 31.",
"acronym": "SCA31.",
"accession": "DI-01060",
"synonyms": "Pure spinocerebellar ataxia Japanese type.; SCA4 pure Japanese type.; Spinocerebellar ataxia 16q22-linked.; ",
"cross_references": "MeSH; D020754.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Cataract 30, multiple types.",
"acronym": "CTRCT30.",
"accession": "DI-03825",
"synonyms": "Pulverulent cataract 30.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Pulmonary venoocclusive disease 1, autosomal dominant.",
"acronym": "PVOD1.",
"accession": "DI-02233",
"synonyms": "Pulmonary veno-occlusive disease.; PVOD.; ",
"cross_references": "MeSH; D011668.",
"definition": "A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Watson syndrome.",
"acronym": "WTSN.",
"accession": "DI-01140",
"synonyms": "Pulmonary stenosis with cafe-au-lait spots.; ",
"cross_references": "MeSH; D009456.",
"definition": "A syndrome characterized by the presence of pulmonary stenosis, cafe- au-lait spots, and intellectual disability. It is considered as an atypical form of neurofibromatosis. ",
"keywords": null
},
{
"identifier": "Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9.",
"acronym": "PFBMFT9.",
"accession": "DI-06698",
"synonyms": "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9.; ",
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other features include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk. Phenotype, age at onset, and severity are determined by telomere length. PFBMFT9 is characterized by the development of pulmonary fibrosis or hematologic abnormalities in adulthood. Liver disease may also be present. There is incomplete penetrance and evidence of genetic anticipation. ",
"keywords": null
},
{
"identifier": "Dursun syndrome.",
"acronym": "DURSS.",
"accession": "DI-02930",
"synonyms": "Pulmonary arterial hypertension leukopenia and atrial septal defect.; ",
"cross_references": "MeSH; D009503.",
"definition": "A disease characterized by pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, intermittent neutropenia, lymphopenia, monocytosis and anemia. ",
"keywords": null
},
{
"identifier": "Progressive supranuclear palsy 1.",
"acronym": "PSNP1.",
"accession": "DI-02215",
"synonyms": "PSP.; Steele-Richardson-Olszewski syndrome.; ",
"cross_references": "MedGen; C0038868.",
"definition": "Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613. ",
"keywords": null
},
{
"identifier": "Psoriasis 7.",
"acronym": "PSORS7.",
"accession": "DI-02668",
"synonyms": "Psoriasis.; Psoriasis vulgaris.; PV.; ",
"cross_references": "MeSH; D011565.",
"definition": "A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. ",
"keywords": null
}
]
}