{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1660&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1620&ordering=synonyms","results":[{"identifier":"Episodic ataxia 5.","acronym":"EA5.","accession":"DI-03073","synonyms":"EA-5.; ","cross_references":"MeSH; D001259.","definition":"A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. ","keywords":null},{"identifier":"Episodic ataxia 6.","acronym":"EA6.","accession":"DI-00477","synonyms":"EA-6.; ","cross_references":"MeSH; D001259.","definition":"A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 3.","acronym":"DEE3.","accession":"DI-00473","synonyms":"Early myoclonic encephalopathy.; EIEE3.; EME.; Epileptic encephalopathy, early infantile, 3.; Neonatal epilepsy with suppression-burst pattern.; ","cross_references":"MeSH; D013036.","definition":"A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. DEE3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Developmental and epileptic encephalopathy 4.","acronym":"DEE4.","accession":"DI-00474","synonyms":"Early myoclonic encephalopathy.; EIEE4.; EME.; Epileptic encephalopathy, early infantile, 4.; Neonatal epilepsy with suppression-burst pattern.; ","cross_references":"MeSH; D013036.","definition":"A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Inflammatory bowel disease 25, autosomal recessive.","acronym":"IBD25.","accession":"DI-02673","synonyms":"Early-onset autosomal recessive inflammatory bowel disease.; ","cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 28, autosomal recessive.","acronym":"IBD28.","accession":"DI-02674","synonyms":"Early-onset autosomal recessive inflammatory bowel disease.; ","cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Alzheimer disease 3.","acronym":"AD3.","accession":"DI-00086","synonyms":"Early-onset familial Alzheimer disease 3.; Familial Alzheimer disease 3.; Familial Alzheimer disease 3 with spastic paraparesis and apraxia.; Familial Alzheimer disease 3 with spastic paraparesis and unusual plaques.; ","cross_references":"MeSH; D000544.","definition":"A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid- beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ","keywords":"KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "},{"identifier":"Tubulointerstitial kidney disease, autosomal dominant, 4.","acronym":"ADTKD4.","accession":"DI-02783","synonyms":"Early-onset hyperuricemia anemia and progressive kidney failure.; Familial juvenile hyperuricemic nephropathy 2.; HNFJ2.; ","cross_references":"MeSH; D007674.","definition":"A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. ","keywords":null},{"identifier":"Epilepsy, progressive myoclonic 10.","acronym":"EPM10.","accession":"DI-04581","synonyms":"Early-onset Lafora body disease.; ","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. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Congenital myopathy 5 with cardiomyopathy.","acronym":"CMYP5.","accession":"DI-01514","synonyms":"Early-onset myopathy with fatal cardiomyopathy.; EOMFC.; Myopathy, early-onset, with fatal cardiomyopathy.; Salih myopathy.; SALMY.; ","cross_references":"MeSH; D009202.","definition":"An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Nephrotic syndrome 3.","acronym":"NPHS3.","accession":"DI-02041","synonyms":"Early-onset nephrotic syndrome type 3.; ","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. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. Most patients with NPHS3 show diffuse mesangial sclerosis on renal biopsy, which is a pathologic entity characterized by mesangial matrix expansion with no mesangial hypercellularity, hypertrophy of the podocytes, vacuolized podocytes, thickened basement membranes, and diminished patency of the capillary lumen. ","keywords":null},{"identifier":"Meier-Gorlin syndrome 1.","acronym":"MGORS1.","accession":"DI-03043","synonyms":"Ear patella short stature syndrome.; EPS.; Microtia absent patellae micrognathia syndrome.; ","cross_references":"MeSH; D008844.","definition":"A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance.","acronym":"SESAMES.","accession":"DI-02543","synonyms":"EAST syndrome.; Epilepsy ataxia sensorineural deafness and tubulopathy.; SESAME syndrome.; ","cross_references":"MeSH; D012640.","definition":"A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. ","keywords":"KW-0209:Deafness.; KW-0991:Intellectual disability.; "},{"identifier":"Epidermolysis bullosa simplex 5A, Ogna type.","acronym":"EBS5A.","accession":"DI-00464","synonyms":"EBS1.; EBSO.; Epidermolysis bullosa simplex, Ogna type.; Epidermolysis bullosa simplex 1.; O-EBS.; ","cross_references":"MeSH; D016110.","definition":"An autosomal dominant form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5A patients manifest generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, EBS5A is differentiated from classical epidermolysis bullosa simplex, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 1B, generalized intermediate.","acronym":"EBS1B.","accession":"DI-00463","synonyms":"EBS2.; EBS generalized.; Epidermolysis bullosa simplex, Koebner type.; Epidermolysis bullosa simplex 2.; K-EBS.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 1C, localized.","acronym":"EBS1C.","accession":"DI-00465","synonyms":"EBS, acral form.; Epidermolysis bullosa of hands and feet.; Epidermolysis bullosa simplex, localized.; Epidermolysis bullosa simplex, Weber-Cockayne type.; WC-EBS.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive.","acronym":"EBS1D.","accession":"DI-00461","synonyms":"EBSB1.; Epidermolysis bullosa simplex, autosomal recessive 1.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency.","acronym":"EBS3.","accession":"DI-03906","synonyms":"EBSB2.; Epidermolysis bullosa simplex, autosomal recessive 2.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS3 is an autosomal recessive disorder characterized by skin blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 5B, with muscular dystrophy.","acronym":"EBS5B.","accession":"DI-00468","synonyms":"EBSMD.; Epidermolysis bullosa simplex and limb-girdle muscular dystrophy.; Epidermolysis bullosa simplex with muscular dystrophy.; MD-EBS.; ","cross_references":"MeSH; D049288.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5B is an autosomal recessive disorder characterized by progressive muscular dystrophy associated with generalized skin blistering. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 2F, with mottled pigmentation.","acronym":"EBS2F.","accession":"DI-00467","synonyms":"EBSMP.; Epidermolysis bullosa simplex, with mottled pigmentation.; Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering.; ","cross_references":"MeSH; D016110.","definition":"A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. ","keywords":"KW-0263:Epidermolysis bullosa.; "}]}