{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4480&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4440&ordering=-identifier","results":[{"identifier":"Erythrocytosis, familial, 8.","acronym":"ECYT8.","accession":"DI-03027","synonyms":"Bisphosphoglycerate mutase deficiency.; Bisphosphoglyceromutase deficiency.; BPGM deficiency.; Diphosphoglycerate mutase deficiency of erythrocyte.; DPGM deficiency.; Erythrocytosis due to bisphosphoglycerate mutase deficiency.; ","cross_references":"MeSH; D000743.","definition":"An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. ","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":"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, 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, 2.","acronym":"ECYT2.","accession":"DI-00480","synonyms":"Autosomal recessive benign erythrocytosis.; Polycythemia Chuvash type.; VHL-dependent polycythemia.; ","cross_references":"MeSH; D011086.","definition":"An autosomal recessive disorder characterized by an increase in serum red blood cell mass, hypersensitivity of erythroid progenitors to erythropoietin, increased erythropoietin serum levels, and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Erythrocytosis, familial, 1.","acronym":"ECYT1.","accession":"DI-00479","synonyms":"Autosomal dominant benign erythrocytosis.; Familial primary polycythemia.; PFCP.; ","cross_references":"MeSH; D011086.","definition":"An autosomal dominant disorder characterized by elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. ","keywords":"KW-0985:Congenital erythrocytosis.; "},{"identifier":"Epithelial recurrent erosion dystrophy.","acronym":"ERED.","accession":"DI-04534","synonyms":"Corneal erosions, recurring hereditary.; RCES.; Recurrent corneal erosion syndrome.; ","cross_references":"MeSH; D003317.","definition":"A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. ","keywords":null},{"identifier":"Episodic pain syndrome, familial, 3.","acronym":"FEPS3.","accession":"DI-03978","synonyms":null,"cross_references":"MeSH; D010146.","definition":"An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue. ","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":"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 kinesigenic dyskinesia 3.","acronym":"EKD3.","accession":"DI-06612","synonyms":"Dystonia 36.; DYT36.; ","cross_references":"MeSH; D004421.","definition":"A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Episodic kinesigenic dyskinesia 1.","acronym":"EKD1.","accession":"DI-03309","synonyms":"Dystonia 10.; DYT10.; Familial paroxysmal dystonia.; Paroxysmal kinesigenic choreoathetosis.; Paroxysmal kinesigenic dyskinesia.; PKC.; PKD.; ","cross_references":"MeSH; D004421.","definition":"An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. ","keywords":"KW-1023:Dystonia.; "},{"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 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 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":"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 2.","acronym":"EA2.","accession":"DI-00476","synonyms":"Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia.; APCA.; CAPA.; EA-2.; Episodic ataxia nystagmus-associated.; Episodic ataxia with nystagmus.; Hereditary paroxysmal cerebellopathy.; ","cross_references":"MeSH; D001259.","definition":"An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy. ","keywords":null},{"identifier":"Episodic ataxia 1.","acronym":"EA1.","accession":"DI-00475","synonyms":"AEMK.; EA-1.; EAM.; Episodic ataxia with myokymia.; Paroxysmal ataxia with neuromyotonia.; ","cross_references":"MeSH; D020386.","definition":"An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. ","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":"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}]}