{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5180&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5140&ordering=synonyms","results":[{"identifier":"Epileptic encephalopathy, infantile or early childhood, 1.","acronym":"IECEE1.","accession":"DI-05114","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epileptic encephalopathy, infantile or early childhood, 2.","acronym":"IECEE2.","accession":"DI-05174","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE2 is an autosomal dominant condition with variable age at seizure onset, ranging from early infancy to 6 years. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epileptic encephalopathy, infantile or early childhood, 3.","acronym":"IECEE3.","accession":"DI-05273","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non- ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epiphyseal chondrodysplasia, Miura type.","acronym":"ECDM.","accession":"DI-04178","synonyms":null,"cross_references":"MeSH; D017880.","definition":"An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis. ","keywords":null},{"identifier":"Epiphyseal dysplasia, multiple, 7.","acronym":"EDM7.","accession":"DI-05118","synonyms":null,"cross_references":"MeSH; D010009.","definition":"A form of multiple epiphyseal dysplasia, a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. EDM7 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Cardiac conduction disease with or without dilated cardiomyopathy.","acronym":"CCDD.","accession":"DI-04282","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Carboxypeptidase N deficiency.","acronym":"CPND.","accession":"DI-01316","synonyms":null,"cross_references":"MedGen; C0398782.","definition":"Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder. ","keywords":null},{"identifier":"Episodic ataxia 8.","acronym":"EA8.","accession":"DI-06856","synonyms":null,"cross_references":"MeSH; D001259.","definition":"A form of episodic ataxia, a neurologic disorder characterized by episodes of poor coordination and balance. EA8 affected individuals have attacks of unsteadiness, general weakness, and slurred speech. Additional variable features include twitching around the eyes, nystagmus, myokymia, and persistent intention tremor. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Episodic ataxia 9.","acronym":"EA9.","accession":"DI-05869","synonyms":null,"cross_references":"MeSH; D001259.","definition":"An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. ","keywords":null},{"identifier":"Episodic pain syndrome, familial, 1.","acronym":"FEPS1.","accession":"DI-03683","synonyms":null,"cross_references":"MeSH; D010146.","definition":"An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes. ","keywords":null},{"identifier":"Episodic pain syndrome, familial, 2.","acronym":"FEPS2.","accession":"DI-03973","synonyms":null,"cross_references":"MeSH; D010146.","definition":"An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities. ","keywords":null},{"identifier":"Capillary malformation-arteriovenous malformation 2.","acronym":"CMAVM2.","accession":"DI-05392","synonyms":null,"cross_references":"MeSH; D054079.","definition":"An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. ","keywords":null},{"identifier":"Capillary malformation-arteriovenous malformation 1.","acronym":"CMAVM1.","accession":"DI-01315","synonyms":null,"cross_references":"MeSH; D054079.","definition":"A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Candidiasis, familial, 9.","acronym":"CANDF9.","accession":"DI-04473","synonyms":null,"cross_references":"MeSH; D002178.","definition":"A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ","keywords":null},{"identifier":"Erythrocytosis, familial, 3.","acronym":"ECYT3.","accession":"DI-00481","synonyms":null,"cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Erythrocytosis, familial, 4.","acronym":"ECYT4.","accession":"DI-00482","synonyms":null,"cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Erythrocytosis, familial, 5.","acronym":"ECYT5.","accession":"DI-05215","synonyms":null,"cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.","acronym":"CAPOK.","accession":"DI-05518","synonyms":null,"cross_references":"MeSH; D010859.","definition":"An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma. ","keywords":"KW-1007:Palmoplantar keratoderma.; KW-1063:Hypotrichosis.; "},{"identifier":"Cardiac valvular dysplasia 2.","acronym":"CVDP2.","accession":"DI-06519","synonyms":null,"cross_references":"MeSH; D006349.","definition":"An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients. ","keywords":null},{"identifier":"Erythrokeratodermia variabilis et progressiva 2.","acronym":"EKVP2.","accession":"DI-05018","synonyms":null,"cross_references":"MeSH; D056266.","definition":"A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ","keywords":"KW-1007:Palmoplantar keratoderma.; "}]}