{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1840&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1800&ordering=-synonyms","results":[{"identifier":"Immunodeficiency 114, folate-responsive.","acronym":"IMD114.","accession":"DI-06794","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder manifesting in early infancy and characterized by recurrent skin and respiratory infections, mucosal bleeding, oral ulcers, chronic diarrhea, and poor overall growth. Affected individuals have lymphopenia, low serum immunoglobulins, and impaired T cell proliferation. Some patients have global developmental delay. ","keywords":null},{"identifier":"Hyperproinsulinemia.","acronym":"HPRI.","accession":"DI-01585","synonyms":null,"cross_references":"MeSH; D003920.","definition":"An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. ","keywords":null},{"identifier":"Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction.","acronym":"CCHS2.","accession":"DI-06200","synonyms":null,"cross_references":"MeSH; D007040.","definition":"An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. ","keywords":null},{"identifier":"Diamond-Blackfan anemia 9.","acronym":"DBA9.","accession":"DI-02684","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":"Central hypoventilation syndrome, congenital, 3.","acronym":"CCHS3.","accession":"DI-06215","synonyms":null,"cross_references":"MeSH; D007040.","definition":"A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension. ","keywords":null},{"identifier":"Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.","acronym":"HMAHCHD.","accession":"DI-01774","synonyms":null,"cross_references":"MeSH; D000592.","definition":"A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. ","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":"Global developmental delay with or without impaired intellectual development.","acronym":"GDDI.","accession":"DI-05485","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by global developmental delay associated with mild-to-moderate intellectual disability, hypotonia and short stature in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cerebellar ataxia, brain abnormalities, and cardiac conduction defects.","acronym":"CABAC.","accession":"DI-06242","synonyms":null,"cross_references":"MeSH; D009461.","definition":"An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Diamond-Blackfan anemia 19.","acronym":"DBA19.","accession":"DI-05473","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. DBA19 inheritance is autosomal dominant. ","keywords":"KW-1024:Diamond-Blackfan anemia.; "},{"identifier":"Cerebellar ataxia, cayman type.","acronym":"ATCAY.","accession":"DI-01333","synonyms":null,"cross_references":"MedGen; C1832585.","definition":"Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 31B.","acronym":"DEE31B.","accession":"DI-06666","synonyms":null,"cross_references":"MeSH; D013036.","definition":"A form of epileptic encephalopathy, a heterogeneous group of severe early-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. DEE31B is an autosomal recessive form with onset in the first months of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.","acronym":"ADCADN.","accession":"DI-03793","synonyms":null,"cross_references":"MeSH; D009290.","definition":"An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. ","keywords":"KW-0209:Deafness.; "},{"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":"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":"Encephalopathy, neonatal severe, due to MECP2 mutations.","acronym":"ENS-MECP2.","accession":"DI-02038","synonyms":null,"cross_references":"MeSH; D001927.","definition":"A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, intellectual disability, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. ","keywords":null},{"identifier":"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2.","acronym":"CAMRQ2.","accession":"DI-03450","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Hypocalcemia, autosomal dominant 2.","acronym":"HYPOC2.","accession":"DI-03851","synonyms":null,"cross_references":"MeSH; D006996.","definition":"A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. ","keywords":null},{"identifier":"Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3.","acronym":"CAMRQ3.","accession":"DI-02743","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Mevalonic aciduria.","acronym":"MEVA.","accession":"DI-01975","synonyms":null,"cross_references":"MedGen; C1959626.","definition":"Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. ","keywords":null}]}