{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1840&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1800&ordering=synonyms","results":[{"identifier":"Epidermolysis bullosa simplex 2A, generalized severe.","acronym":"EBS2A.","accession":"DI-06251","synonyms":"Epidermolysis bullosa simplex 2a, Dowling-Meara type.; ","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. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 2B, generalized intermediate.","acronym":"EBS2B.","accession":"DI-06252","synonyms":"Epidermolysis bullosa simplex 2B, Koebner type.; ","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. EBS2B is an autosomal dominant form characterized by generalized blistering manifesting 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 2C, localized.","acronym":"EBS2C.","accession":"DI-06253","synonyms":"Epidermolysis bullosa simplex 2C, Weber-Cockayne type.; ","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. EBS2C 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 2E, with migratory circinate erythema.","acronym":"EBS2E.","accession":"DI-00466","synonyms":"Epidermolysis bullosa simplex, with migratory circinate erythema.; ","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. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa simplex 5C, with pyloric atresia.","acronym":"EBS5C.","accession":"DI-01532","synonyms":"Epidermolysis bullosa simplex with pyloric atresia.; ","cross_references":"MeSH; D004820.","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. EBS5C is an autosomal recessive disorder characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa dystrophica, Bart type.","acronym":"B-DEB.","accession":"DI-00452","synonyms":"Epidermolysis bullosa with congenital localized absence of skin and deformity of nails.; ","cross_references":"MeSH; D016108.","definition":"An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epilepsy, early-onset, 1, vitamin B6-dependent.","acronym":"EPEO1.","accession":"DI-04934","synonyms":"Epilepsy, early-onset, vitamin B6-dependent.; EPVB6D.; ","cross_references":"MeSH; D012640.","definition":"An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, intellectual disability and learning disability. Seizures onset is in the first days or months of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Myoclonic epilepsy of lafora 1.","acronym":"MELF1.","accession":"DI-00954","synonyms":"Epilepsy, progressive myoclonic 2A.; EPM2.; EPM2A.; Lafora's disease.; Lafora disease.; LD.; MELF.; Myoclonic epilepsy of Lafora.; Progressive myoclonic epilepsy 2.; Progressive myoclonic epilepsy 2A.; Progressive myoclonic epilepsy Lafora type.; ","cross_references":"MeSH; D020192.","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. MELF1 is an autosomal recessive, severe form characterized by onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, myoclonic jerks, generalized seizures, and often visual hallucination. Typically, as seizures increase in frequency, cognitive function declines towards dementia, and affected individuals die usually within 10 years after onset. At the cellular level, MELF1 is characterized by accumulation of starch-like polyglucosans called Lafora bodies (LBs) that are most abundant in organs with the highest glucose metabolism: brain, heart, liver and skeletal muscle. ","keywords":"KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "},{"identifier":"Spinocerebellar ataxia with epilepsy.","acronym":"SCAE.","accession":"DI-04684","synonyms":"Epilepsy, progressive myoclonic 5.; EPM5.; Progressive myoclonic epilepsy with sensory ataxic neuropathy.; ","cross_references":"MeSH; D020191.","definition":"An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases. ","keywords":"KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; KW-0887:Epilepsy.; "},{"identifier":"Even-plus syndrome.","acronym":"EVPLS.","accession":"DI-04676","synonyms":"Epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive syndrome characterized by epiphyseal and vertebral dysplasia, prenatal-onset short stature, a distinct craniofacial phenotype with microtia, a flat facial profile with flat nose and triangular nares, cardiac malformations, and additional findings such as anal atresia, hypodontia, aplasia cutis, and others. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type.","acronym":"THMD5.","accession":"DI-03377","synonyms":"Episodic encephalopathy due to thiamine pyrophosphokinase deficiency.; ","cross_references":"MeSH; D020739.","definition":"An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. ","keywords":null},{"identifier":"Ovarian cancer.","acronym":"OC.","accession":"DI-01655","synonyms":"Epithelial ovarian cancer.; ","cross_references":"MeSH; D010051.","definition":"The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. ","keywords":null},{"identifier":"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant.","acronym":"CLN8NE.","accession":"DI-00817","synonyms":"EPMR.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive intellectual disability. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; KW-0887:Epilepsy.; "},{"identifier":"Protoporphyria, erythropoietic, 1.","acronym":"EPP1.","accession":"DI-00484","synonyms":"EPP.; Erythrohepatic protoporphyria.; Erythropoietic protoporphyria.; Ferrochelatase deficiency.; Heme synthetase deficiency.; ","cross_references":"MeSH; D046351.","definition":"An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. ","keywords":null},{"identifier":"Autism, X-linked 6.","acronym":"AUTSX6.","accession":"DI-03482","synonyms":"Epsilon-trimethyllysine hydroxylase deficiency.; TMLHED.; ","cross_references":"MeSH; D008661.","definition":"A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTSX6 patients may respond favorably to carnitine supplementation. ","keywords":"KW-1269:Autism.; "},{"identifier":"Wagner vitreoretinopathy.","acronym":"WGVRP.","accession":"DI-02416","synonyms":"Erosive vitreoretinopathy.; ERVR.; Hyaloideoretinal degeneration of Wagner.; Wagner syndrome 1.; Wagner vitreoretinal degeneration.; WGN1.; ","cross_references":"MeSH; D012162.","definition":"A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia. ","keywords":null},{"identifier":"Symptomatic deficiency in lactate transport.","acronym":"SDLT.","accession":"DI-02351","synonyms":"Erythrocyte lactate transporter defect.; ","cross_references":"MedGen; C1855577.","definition":"Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals. ","keywords":null},{"identifier":"Spinocerebellar ataxia 34.","acronym":"SCA34.","accession":"DI-04188","synonyms":"Erythrokeratodermia with ataxia.; ","cross_references":"MeSH; D056266.","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. SCA34 is an autosomal dominant form characterized by the association of progressive cerebellar ataxia with erythrokeratodermia variabilis. ","keywords":"KW-0950:Spinocerebellar ataxia.; "},{"identifier":"Keratolytic winter erythema.","acronym":"KWE.","accession":"DI-05321","synonyms":"Erythrokeratolysis hiemalis.; Oudtshoorn skin disease.; ","cross_references":"MeSH; D004890.","definition":"An autosomal dominant genodermatosis characterized by recurrent episodes of palmoplantar erythema and epidermal peeling presenting seasonal variation. KWE manifests during childhood. Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin can appear unremarkable. Itching can occur, and hyperhidrosis, associated with a pungent odor, is invariably present. Formation of vesicles is rare, whereas keratolysis that causes the formation of dry blisters is regularly seen. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family. ","keywords":null},{"identifier":"Multiple pterygium syndrome, Escobar variant.","acronym":"EVMPS.","accession":"DI-01536","synonyms":"Escobar syndrome.; Multiple pterygium syndrome.; Multiple pterygium syndrome, non-lethal type.; Nonlethal type multiple pterygium syndrome.; Pterygium colli syndrome.; Pterygium syndrome.; Pterygium universale.; ","cross_references":"MedGen; CN031762.","definition":"Non-lethal form of arthrogryposis multiplex congenita. It is an autosomal recessive condition characterized by excessive webbing (pterygia), congenital contractures (arthrogryposis), and scoliosis. Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism in males. Congenital contractures are common and may be caused by reduced fetal movements at sensitive times of development. Possible causes of decreased fetal mobility include space constraints such as oligohydramnion, drugs, metabolic conditions or neuromuscular disorders including myasthenia gravis. ","keywords":null}]}