{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=460&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=420&ordering=-synonyms","results":[{"identifier":"Atrial septal defect 4.","acronym":"ASD4.","accession":"DI-00152","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Atrial septal defect 5.","acronym":"ASD5.","accession":"DI-02497","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Atrial septal defect 6.","acronym":"ASD6.","accession":"DI-02498","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Autism 17.","acronym":"AUTS17.","accession":"DI-02794","synonyms":null,"cross_references":"MeSH; D001321.","definition":"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. ","keywords":"KW-1269:Autism.; "},{"identifier":"Atrial septal defect 8.","acronym":"ASD8.","accession":"DI-03333","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Atrial septal defect 9.","acronym":"ASD9.","accession":"DI-03370","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Amelogenesis imperfecta 1J.","acronym":"AI1J.","accession":"DI-04931","synonyms":null,"cross_references":"MeSH; D000567.","definition":"A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. ","keywords":"KW-0986:Amelogenesis imperfecta.; "},{"identifier":"Benign essential blepharospasm.","acronym":"BEB.","accession":"DI-00180","synonyms":null,"cross_references":"MeSH; D001764.","definition":"A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"46,XX sex reversal 5.","acronym":"SRXX5.","accession":"DI-05853","synonyms":null,"cross_references":"MeSH; D058531.","definition":"A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Atrioventricular septal defect 2.","acronym":"AVSD2.","accession":"DI-01195","synonyms":null,"cross_references":"MeSH; D004694.","definition":"A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ","keywords":null},{"identifier":"Atrioventricular septal defect 4.","acronym":"AVSD4.","accession":"DI-03332","synonyms":null,"cross_references":"MeSH; D004694.","definition":"A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ","keywords":null},{"identifier":"Atrioventricular septal defect 5.","acronym":"AVSD5.","accession":"DI-03369","synonyms":null,"cross_references":"MeSH; D004694.","definition":"A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ","keywords":null},{"identifier":"Attention deficit-hyperactivity disorder 7.","acronym":"ADHD7.","accession":"DI-02574","synonyms":null,"cross_references":"MeSH; D001289.","definition":"A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. ","keywords":null},{"identifier":"Attention deficit-hyperactivity disorder 8.","acronym":"ADHD8.","accession":"DI-06470","synonyms":null,"cross_references":"MeSH; D001289.","definition":"A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. ","keywords":null},{"identifier":"Brachydactyly E2.","acronym":"BDE2.","accession":"DI-02711","synonyms":null,"cross_references":"MeSH; D059327.","definition":"A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges. ","keywords":null},{"identifier":"Auditory neuropathy and optic atrophy.","acronym":"ANOA.","accession":"DI-05116","synonyms":null,"cross_references":"MeSH; D034381.","definition":"An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; "},{"identifier":"Bardet-Biedl syndrome 20.","acronym":"BBS20.","accession":"DI-06190","synonyms":null,"cross_references":"MeSH; D020788.","definition":"A form of Bardet-Biedl syndrome, 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":"Cardiomyopathy, dilated, 1V.","acronym":"CMD1V.","accession":"DI-02968","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"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":"Ciliary dyskinesia, primary, 48, without situs inversus.","acronym":"CILD48.","accession":"DI-06504","synonyms":null,"cross_references":"MeSH; D002925.","definition":"A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed. ","keywords":"KW-0990:Primary ciliary dyskinesia.; "}]}