{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1880&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1840&ordering=-synonyms","results":[{"identifier":"Auriculocondylar syndrome 2A.","acronym":"ARCND2A.","accession":"DI-03468","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal dominant 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":"Hypoplastic left heart syndrome 1.","acronym":"HLHS1.","accession":"DI-01799","synonyms":null,"cross_references":"MeSH; D018636.","definition":"A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. ","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":"Diamond-Blackfan anemia 7.","acronym":"DBA7.","accession":"DI-00397","synonyms":null,"cross_references":"MeSH; D029503.","definition":"A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond- Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre- Robin syndrome and cleft palate), thumb and urogenital anomalies. ","keywords":"KW-1024:Diamond-Blackfan anemia.; "},{"identifier":"Hypothyroidism, central, and testicular enlargement.","acronym":"CHTE.","accession":"DI-03629","synonyms":null,"cross_references":"MeSH; D003409.","definition":"A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. ","keywords":"KW-0984:Congenital hypothyroidism.; "},{"identifier":"Hypotaurinemic retinal degeneration and cardiomyopathy.","acronym":"HTRDC.","accession":"DI-06123","synonyms":null,"cross_references":"MeSH; D012162.","definition":"An autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Auriculocondylar syndrome 3.","acronym":"ARCND3.","accession":"DI-04052","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":"Hypothyroidism, congenital, non-goitrous, 5.","acronym":"CHNG5.","accession":"DI-01404","synonyms":null,"cross_references":"MeSH; D003409.","definition":"A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. ","keywords":"KW-0984:Congenital hypothyroidism.; "},{"identifier":"Dyskeratosis congenita, digenic.","acronym":"DKCD.","accession":"DI-06506","synonyms":null,"cross_references":"MeSH; D019871.","definition":"A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance. ","keywords":"KW-1011:Dyskeratosis congenita.; "},{"identifier":"Hypothyroidism, congenital, non-goitrous, 8.","acronym":"CHNG8.","accession":"DI-05650","synonyms":null,"cross_references":"MeSH; D003409.","definition":"A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients. ","keywords":"KW-0984:Congenital hypothyroidism.; "},{"identifier":"Auriculocondylar syndrome 4.","acronym":"ARCND4.","accession":"DI-06729","synonyms":null,"cross_references":"MeSH; D018640.","definition":"An autosomal dominant 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":"Dystonia 23.","acronym":"DYT23.","accession":"DI-04376","synonyms":null,"cross_references":"MeSH; D004421.","definition":"A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. ","keywords":"KW-1023:Dystonia.; "},{"identifier":"Amelogenesis imperfecta, hypomaturation type, 2A5.","acronym":"AI2A5.","accession":"DI-04153","synonyms":null,"cross_references":"MeSH; D000567.","definition":"A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. ","keywords":"KW-0986:Amelogenesis imperfecta.; "},{"identifier":"Hennekam lymphangiectasia-lymphedema syndrome 2.","acronym":"HKLLS2.","accession":"DI-04238","synonyms":null,"cross_references":"MeSH; D008209.","definition":"A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and some manifest intellectual disability. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly. HKLLS2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Autism 15.","acronym":"AUTS15.","accession":"DI-02792","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":"Epidermodysplasia verruciformis 3.","acronym":"EV3.","accession":"DI-05446","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV3 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Encephalopathy, progressive, with or without lipodystrophy.","acronym":"PELD.","accession":"DI-04174","synonyms":null,"cross_references":"MeSH; D020271.","definition":"A neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Focal segmental glomerulosclerosis 5.","acronym":"FSGS5.","accession":"DI-02556","synonyms":null,"cross_references":"MeSH; D005923.","definition":"A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1W.","acronym":"CMD1W.","accession":"DI-00225","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":"Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.","acronym":"MFRG.","accession":"DI-05346","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures. ","keywords":"KW-0905:Primary microcephaly.; "}]}