{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=140&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=100&ordering=-synonyms","results":[{"identifier":"Achondroplasia.","acronym":"ACH.","accession":"DI-00021","synonyms":null,"cross_references":"MeSH; D000130.","definition":"A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Adrenal insufficiency, NR5A1-related.","acronym":"AINR.","accession":"DI-05003","synonyms":null,"cross_references":"MeSH; D000309.","definition":"A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 5, juvenile.","acronym":"ALS5.","accession":"DI-04565","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Amyloidosis, hereditary systemic 6.","acronym":"AMYLD6.","accession":"DI-06896","synonyms":null,"cross_references":"MeSH; D028226.","definition":"A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Anemia, sideroblastic, 3, pyridoxine-refractory.","acronym":"SIDBA3.","accession":"DI-04678","synonyms":null,"cross_references":"MeSH; D000756.","definition":"A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Advanced sleep phase syndrome, familial, 1.","acronym":"FASPS1.","accession":"DI-01548","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","keywords":null},{"identifier":"Advanced sleep phase syndrome, familial, 2.","acronym":"FASPS2.","accession":"DI-03718","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","keywords":null},{"identifier":"Advanced sleep phase syndrome, familial, 3.","acronym":"FASPS3.","accession":"DI-04696","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","keywords":null},{"identifier":"Advanced sleep phase syndrome, familial, 4.","acronym":"FASPS4.","accession":"DI-06481","synonyms":null,"cross_references":"MeSH; D020178.","definition":"An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ","keywords":null},{"identifier":"Achromatopsia 4.","acronym":"ACHM4.","accession":"DI-01166","synonyms":null,"cross_references":"MeSH; D003117.","definition":"An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ","keywords":null},{"identifier":"Achromatopsia 5.","acronym":"ACHM5.","accession":"DI-05080","synonyms":null,"cross_references":"MeSH; D003117.","definition":"A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia.","acronym":"ALS22.","accession":"DI-04318","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Achromatopsia 7.","acronym":"ACHM7.","accession":"DI-04499","synonyms":null,"cross_references":"MeSH; D003117.","definition":"A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia.","acronym":"ALS26.","accession":"DI-06002","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS26 inheritance is autosomal dominant. Some patients may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Acid-labile subunit deficiency.","acronym":"ACLSD.","accession":"DI-04198","synonyms":null,"cross_references":"MeSH; D006130.","definition":"A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. ","keywords":null},{"identifier":"Alopecia-intellectual disability syndrome 4.","acronym":"APMR4.","accession":"DI-05812","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay. ","keywords":"KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "},{"identifier":"Glomuvenous malformations.","acronym":"GVMs.","accession":"DI-01668","synonyms":null,"cross_references":"MedGen; C1841984.","definition":"Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens. ","keywords":null},{"identifier":"Agenesis of corpus callosum, cardiac, ocular, and genital syndrome.","acronym":"ACOGS.","accession":"DI-05864","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Amegakaryocytic thrombocytopenia, congenital, 1.","acronym":"CAMT1.","accession":"DI-01388","synonyms":null,"cross_references":"MeSH; D013921.","definition":"An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. ","keywords":null},{"identifier":"Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.","acronym":"ATITHS.","accession":"DI-06132","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients. ","keywords":"KW-0991:Intellectual disability.; "}]}