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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6140&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6100&ordering=-synonyms",
"results": [
{
"identifier": "Epilepsy, progressive myoclonic 1.",
"acronym": "EPM1.",
"accession": "DI-00952",
"synonyms": "Baltic myoclonic epilepsy.; EPM1A.; Myoclonic epilepsy of Unverricht and Lundborg.; Progressive myoclonic epilepsy 1.; Progressive myoclonic epilepsy 1A.; Progressive myoclonic epilepsy Unverricht-Lundborg type.; ULD.; ",
"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. EPM1 is an autosomal recessive form characterized by severe, stimulus- sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial adult myoclonic, 7.",
"acronym": "FAME7.",
"accession": "DI-05298",
"synonyms": "BAFME7.; Benign adult familial myoclonic epilepsy 27.; Cortical myoclonic tremor with epilepsy, familial, 7.; FCMTE7.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME7 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial adult myoclonic, 6.",
"acronym": "FAME6.",
"accession": "DI-05297",
"synonyms": "BAFME6.; Benign adult familial myoclonic epilepsy 6.; Cortical myoclonic tremor with epilepsy, familial, 6.; FCMTE6.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME6 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Epilepsy, familial adult myoclonic, 1.",
"acronym": "FAME1.",
"accession": "DI-05296",
"synonyms": "BAFME1.; Benign adult familial myoclonic epilepsy 1.; Cortical myoclonic tremor with epilepsy, familial, 1.; FCMTE1.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME1 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Immunodeficiency 43.",
"acronym": "IMD43.",
"accession": "DI-01765",
"synonyms": "B2M deficiency.; Beta-2-microglobulin deficiency.; Hypercatabolic hypoproteinemia.; Hypoproteinemia, hypercatabolic.; MHC1D4.; MHC class I deficiency 4.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease. ",
"keywords": null
},
{
"identifier": "Spinocerebellar ataxia 3.",
"acronym": "SCA3.",
"accession": "DI-01068",
"synonyms": "Azorean neurologic disease.; Machado-Joseph disease.; MJD.; Nigrospinodentatal degeneration.; Spinocerebellar atrophy.; ",
"cross_references": "MeSH; D020754.",
"definition": "Spinocerebellar ataxia is 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. ",
"keywords": "KW-0950:Spinocerebellar ataxia.; "
},
{
"identifier": "Spermatogenic failure Y-linked 2.",
"acronym": "SPGFY2.",
"accession": "DI-02062",
"synonyms": "Azoospermia non-obstructive Y-linked.; Non-obstructive azoospermia and infertility.; Oligospermia non-obstructive Y-linked.; Oligozoospermia non-obstructive Y-linked.; Spermatogenic arrest Y-linked.; Spermatogenic failure nonobstructive Y-linked.; ",
"cross_references": "MeSH; D053713.",
"definition": "A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure 4.",
"acronym": "SPGF4.",
"accession": "DI-02748",
"synonyms": "Azoospermia due to perturbations of meiosis.; Azoospermia with maturation arrest.; Spermatogenesis arrest.; ",
"cross_references": "MeSH; D053713.",
"definition": "An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes. ",
"keywords": null
},
{
"identifier": "Posterior column ataxia with retinitis pigmentosa.",
"acronym": "PCARP.",
"accession": "DI-03015",
"synonyms": "AXPC1.; ",
"cross_references": "MeSH; D012174.",
"definition": "A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Weill-Marchesani syndrome 1.",
"acronym": "WMS1.",
"accession": "DI-01143",
"synonyms": "Autosomal recessive Weill-Marchesani syndrome.; Congenital mesodermal dysmorphodystrophy.; Spherophakia-brachymorphia syndrome.; ",
"cross_references": "MeSH; D056846.",
"definition": "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Tetraamelia syndrome 1.",
"acronym": "TETAMS1.",
"accession": "DI-01262",
"synonyms": "Autosomal recessive tetra-amelia.; Tetraamelia syndrome, autosomal recessive.; ",
"cross_references": "MeSH; D004480.",
"definition": "A form of tetraamelia, a rare disease characterized by rudimentary appendages or complete absence of all four limbs, and other anomalies such as craniofacial, nervous system, pulmonary, skeletal and urogenital defects. TETAMS1 patients manifest complete limb agenesis without defects of scapulae or clavicles. Other features include bilateral cleft lip/palate, diaphragmatic defect with bilobar right lung, renal and adrenal agenesis, pelvic hypoplasia, and urogenital defects. TETAMS1 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Severe combined immunodeficiency due to NHEJ1 deficiency.",
"acronym": "NHEJ1-SCID.",
"accession": "DI-02297",
"synonyms": "Autosomal recessive T-cell-negative, B cell-negative, NK cell-positive, severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation.; NHEJ1 syndrome.; ",
"cross_references": "MedGen; C1969800.",
"definition": "SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. NHEJ1-SCID is characterized by a profound T- and B-lymphocytopenia associated with increased cellular sensitivity to ionizing radiation, microcephaly and growth retardation. Some patients may manifest SCID with sensitivity to ionizing radiation without microcephaly and mild growth retardation, probably due to hypomorphic NHEJ1 mutations. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 1.",
"acronym": "CPSQ1.",
"accession": "DI-01261",
"synonyms": "Autosomal recessive symmetric spastic cerebral palsy 1.; ",
"cross_references": "MeSH; D002547.",
"definition": "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, intellectual disability and sometimes epilepsy can be part of the clinical picture. ",
"keywords": null
},
{
"identifier": "Nephrotic syndrome 2.",
"acronym": "NPHS2.",
"accession": "DI-01260",
"synonyms": "Autosomal recessive steroid-resistant nephrotic syndrome.; SRN.; SRN1.; ",
"cross_references": "MeSH; D009404.",
"definition": "A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non- specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 31B.",
"acronym": "IMD31B.",
"accession": "DI-03106",
"synonyms": "Autosomal recessive STAT1 deficiency.; Autosomal recessive susceptibility to mycobacterial and viral infections.; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive.; Mycobacterial and viral infections due to complete STAT1 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness. ",
"keywords": null
},
{
"identifier": "Sick sinus syndrome 1.",
"acronym": "SSS1.",
"accession": "DI-01028",
"synonyms": "Autosomal recessive sick sinus syndrome 1.; Congenital absence of sinus rhythm.; Familial sinus bradycardia syndrome.; Familial sinus node disease autosomal recessive.; Sick sinus syndrome, congenital.; Sinus bradycardia syndrome, familial.; Sinus node disease, familial, autosomal recessive.; ",
"cross_references": "MeSH; D012804.",
"definition": "The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood. ",
"keywords": null
},
{
"identifier": "Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss.",
"acronym": "DRTA2.",
"accession": "DI-01495",
"synonyms": "Autosomal recessive renal tubular acidosis with progressive nerve deafness.; Distal renal tubular acidosis with deafness.; Renal tubular acidosis with progressive nerve deafness.; RTA with progressive nerve deafness.; ",
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disease characterized by the association of renal distal tubular acidosis with sensorineural hearing loss. Distal renal tubular acidosis is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development.",
"acronym": "pRTA-OA.",
"accession": "DI-02226",
"synonyms": "Autosomal recessive proximal RTA.; Proximal renal tubular acidosis with ocular abnormalities.; ",
"cross_references": "MeSH; D000141.",
"definition": "An extremely rare autosomal recessive syndrome characterized by short stature, profound proximal renal tubular acidosis, intellectual disability, bilateral glaucoma, cataracts and bandkeratopathy. pRTA is due to a failure of the proximal tubular cells to reabsorb filtered bicarbonate from the urine, leading to urinary bicarbonate wasting and subsequent acidemia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 56.",
"acronym": "IMD56.",
"accession": "DI-03764",
"synonyms": "Autosomal recessive primary immunodeficiency IL21R-related.; IL21R immunodeficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class- switched B-cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens. ",
"keywords": null
},
{
"identifier": "Microphthalmia, isolated, 6.",
"acronym": "MCOP6.",
"accession": "DI-02986",
"synonyms": "Autosomal recessive posterior microphthalmos.; Posterior non-syndromic microphthalmia.; ",
"cross_references": "MeSH; D008850.",
"definition": "A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. ",
"keywords": "KW-1013:Microphthalmia.; "
}
]
}