{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=360&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=320&ordering=-synonyms","results":[{"identifier":"Basal ganglia calcification, idiopathic, 8, autosomal recessive.","acronym":"IBGC8.","accession":"DI-05778","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Bardet-Biedl syndrome 4.","acronym":"BBS4.","accession":"DI-00162","synonyms":null,"cross_references":"MeSH; D020788.","definition":"A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ","keywords":"KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "},{"identifier":"Bardet-Biedl syndrome 2.","acronym":"BBS2.","accession":"DI-00160","synonyms":null,"cross_references":"MeSH; D020788.","definition":"A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ","keywords":"KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "},{"identifier":"Aplasia cutis-enamel dysplasia.","acronym":"ACED.","accession":"DI-06886","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by congenital absence of a portion of skin of the scalp with or without skull defects, enamel hypoplasia, and neurodevelopmental delay with autism spectrum disorder. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Albright hereditary osteodystrophy.","acronym":"AHO.","accession":"DI-00073","synonyms":null,"cross_references":"MeSH; D011547.","definition":"A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels. ","keywords":"KW-0242:Dwarfism.; KW-0550:Obesity.; "},{"identifier":"Aplasia or hypoplasia of the breasts and/or nipples 2.","acronym":"BNAH2.","accession":"DI-04216","synonyms":null,"cross_references":"MeSH; D001941.","definition":"A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). ","keywords":null},{"identifier":"Aplastic anemia.","acronym":"AA.","accession":"DI-02842","synonyms":null,"cross_references":"MeSH; D000741.","definition":"A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. ","keywords":null},{"identifier":"Auditory neuropathy, autosomal dominant 2.","acronym":"AUNA2.","accession":"DI-06691","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA2 is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. The outer hair cell function is preserved initially but declines with age. ","keywords":"KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "},{"identifier":"Alfadhel syndrome.","acronym":"AFDL.","accession":"DI-06815","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Bleeding disorder, platelet-type, 19.","acronym":"BDPLT19.","accession":"DI-04294","synonyms":null,"cross_references":"MeSH; D006470.","definition":"A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ","keywords":null},{"identifier":"Auriculocondylar syndrome 2B.","acronym":"ARCND2B.","accession":"DI-06730","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ","keywords":null},{"identifier":"Basal ganglia calcification, idiopathic, 5.","acronym":"IBGC5.","accession":"DI-03923","synonyms":null,"cross_references":"MeSH; D002114.","definition":"A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas. ","keywords":null},{"identifier":"Alkuraya-Kucinskas syndrome.","acronym":"ALKKUCS.","accession":"DI-05169","synonyms":null,"cross_references":"MeSH; D009421.","definition":"An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. ","keywords":null},{"identifier":"Atrial fibrillation, familial, 12.","acronym":"ATFB12.","accession":"DI-03143","synonyms":null,"cross_references":"MeSH; D001281.","definition":"A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ","keywords":"KW-1020:Atrial fibrillation.; "},{"identifier":"Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities.","acronym":"ARCME.","accession":"DI-06765","synonyms":null,"cross_references":"MeSH; D009202.","definition":"An autosomal recessive disorder characterized by life-threatening dilated cardiomyopathy in early childhood, with or without features of inflammation on cardiac histology. There is also a variably expressed ectodermal phenotype, including wooly or wiry hair, wedged teeth, xerotic skin, and dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; "},{"identifier":"Allergic rhinitis.","acronym":"ALRH.","accession":"DI-02868","synonyms":null,"cross_references":"MeSH; D012221.","definition":"A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure. ","keywords":null},{"identifier":"Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.","acronym":"ACPHD.","accession":"DI-04316","synonyms":null,"cross_references":"MeSH; D034381.","definition":"A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. ","keywords":"KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "},{"identifier":"Ayme-Gripp syndrome.","acronym":"AYGRP.","accession":"DI-04468","synonyms":null,"cross_references":"MeSH; D019066.","definition":"A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0898:Cataract.; KW-0991:Intellectual disability.; "},{"identifier":"Acromesomelic dysplasia 4.","acronym":"AMD4.","accession":"DI-06276","synonyms":null,"cross_references":"MeSH; D004392.","definition":"A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Cardiomyopathy, familial hypertrophic, 26.","acronym":"CMH26.","accession":"DI-04771","synonyms":null,"cross_references":"MeSH; D024741.","definition":"A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ","keywords":"KW-0122:Cardiomyopathy.; "}]}