{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1280&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1240&ordering=-synonyms","results":[{"identifier":"Combined oxidative phosphorylation deficiency 46.","acronym":"COXPD46.","accession":"DI-05878","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 47.","acronym":"COXPD47.","accession":"DI-05882","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 48.","acronym":"COXPD48.","accession":"DI-05913","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 49.","acronym":"COXPD49.","accession":"DI-05914","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 5.","acronym":"COXPD5.","accession":"DI-01368","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 50.","acronym":"COXPD50.","accession":"DI-05915","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial encephalomyopathy characterized by intrauterine growth retardation, poor overall growth, delayed psychomotor development, hypotonia, muscle weakness, progressive loss of ambulation, and mitochondrial oxidative phosphorylation deficiency in patient tissues. Brain imaging shows partial agenesis of the corpus callosum. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 51.","acronym":"COXPD51.","accession":"DI-05943","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 52.","acronym":"COXPD52.","accession":"DI-06148","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Bleeding disorder, vascular-type.","acronym":"BDVAS.","accession":"DI-06847","synonyms":null,"cross_references":"MeSH; D006474.","definition":"An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 54.","acronym":"COXPD54.","accession":"DI-06332","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 55.","acronym":"COXPD55.","accession":"DI-06333","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A mitochondrial disease characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia may be present in some patients. COXPD55 transmission pattern is consistent with autosomal dominant inheritance in some families, and with autosomal recessive inheritance in others. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 56.","acronym":"COXPD56.","accession":"DI-06553","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 57.","acronym":"COXPD57.","accession":"DI-06577","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disease characterized by multisystemic features including encephalopathy, neurodevelopmental regression, ocular anomalies, decreased vision, auditory neuropathy, sensorineural hearing loss, and cardiac defects. Disease severity is variable, ranging from premature death in infancy to permanent disability in young adulthood. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 58.","acronym":"COXPD58.","accession":"DI-06725","synonyms":null,"cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disease manifesting in the first 5 years of life and characterized by a wide range of clinical presentations. Clinical features include neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with non-specific brain abnormalities, or mitochondrial myopathy with a treatable neuromuscular transmission defect. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Combined oxidative phosphorylation deficiency 59.","acronym":"COXPD59.","accession":"DI-06810","synonyms":null,"cross_references":"MeSH; D007888.","definition":"An autosomal recessive mitochondrial disease presenting with multisystem manifestations of variable severity. The disease spectrum ranges from lethal infantile Leigh syndrome to a milder disorder characterized by hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder, and survival into adulthood. ","keywords":"KW-0431:Leigh syndrome.; "},{"identifier":"Alacrima, achalasia, and impaired intellectual development syndrome.","acronym":"AAMR.","accession":"DI-03937","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Combined oxidative phosphorylation deficiency 7.","acronym":"COXPD7.","accession":"DI-02900","synonyms":null,"cross_references":"MeSH; D017237.","definition":"A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Blepharophimosis-impaired intellectual development syndrome.","acronym":"BIS.","accession":"DI-06094","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Blistering, acantholytic, of oral and laryngeal mucosa.","acronym":"ABOLM.","accession":"DI-06040","synonyms":null,"cross_references":"MeSH; D009059.","definition":"An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle. ","keywords":null},{"identifier":"Hypotrichosis and recurrent skin vesicles.","acronym":"HRSV.","accession":"DI-02555","synonyms":null,"cross_references":"MeSH; D007039.","definition":"A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. ","keywords":"KW-1063:Hypotrichosis.; "}]}