{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=240&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=200&ordering=synonyms","results":[{"identifier":"Hirschsprung disease 2.","acronym":"HSCR2.","accession":"DI-01747","synonyms":"Aganglionic megacolon.; MGC.; ","cross_references":"MeSH; D006627.","definition":"A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. ","keywords":"KW-0367:Hirschsprung disease.; "},{"identifier":"Cerebral creatine deficiency syndrome 3.","acronym":"CCDS3.","accession":"DI-01189","synonyms":"AGAT deficiency.; Arginine:glycine amidinotransferase deficiency.; Creatine deficiency syndrome due to AGAT deficiency.; GATM deficiency.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 39 with leukodystrophy.","acronym":"DEE39.","accession":"DI-02562","synonyms":"AGC1 deficiency.; Aspartate-glutamate carrier 1 deficiency.; EIEE39.; Epileptic encephalopathy, early infantile, 39.; Global cerebral hypomyelination.; Hypomyelination, global cerebral.; ","cross_references":"MeSH; D020279.","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. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. ","keywords":null},{"identifier":"Amyloidosis, hereditary systemic 4, Finnish type.","acronym":"AMYLD4.","accession":"DI-00101","synonyms":"AGel.; Amyloid cranial neuropathy with lattice corneal dystrophy.; Amyloidosis 5.; Amyloidosis due to mutant gelsolin.; Amyloidosis V.; Familial amyloidosis Finnish type.; Familial amyloid polyneuropathy type IV.; Finnish type amyloidosis.; Gelsolin amyloidosis.; Lattice corneal dystrophy type II.; Meretoja type amyloidosis.; ","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. AMYLD4 is due to gelsolin amyloid deposition and is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. AMYLD4 is usually inherited in an autosomal dominant pattern. However, homozygotes with a more severe phenotype have also been reported. ","keywords":"KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "},{"identifier":"Combined oxidative phosphorylation deficiency 2.","acronym":"COXPD2.","accession":"DI-01365","synonyms":"Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Intellectual developmental disorder, X-linked, syndromic 28.","acronym":"MRXS28.","accession":"DI-00053","synonyms":"Agenesis of the corpus callosum with impaired intellectual development, ocular coloboma and micrognathia.; ","cross_references":"MeSH; D061085.","definition":"An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cataract 6, multiple types.","acronym":"CTRCT6.","accession":"DI-02506","synonyms":"Age-related cortical cataract 2.; ARCC2.; Cataract posterior polar 1.; CTPA.; CTPP.; CTPP1.; ","cross_references":"MeSH; D002386.","definition":"An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Glycogen storage disease 3.","acronym":"GSD3.","accession":"DI-00523","synonyms":"AGL deficiency.; Amylo-1,6-glucosidase deficiency.; Cori disease.; Forbes disease.; GDE deficiency.; Glycogen debranching enzyme deficiency.; Glycogen storage disease III.; Glycogen storage disease IIIa.; Glycogen storage disease IIIb.; Glycogen storage disease IIIc.; Glycogen storage disease IIId.; GSD-III.; GSD IIIa.; GSD IIIb.; GSD IIIc.; GSD IIId.; ","cross_references":"MeSH; D006010.","definition":"A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"X-linked agammaglobulinemia.","acronym":"XLA.","accession":"DI-02427","synonyms":"AGMX1.; IMD1.; Immunodeficiency type 1.; X-linked agammaglobulinemia type 1.; ","cross_references":"MedGen; C0241932.","definition":"Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin. ","keywords":null},{"identifier":"Myelofibrosis with myeloid metaplasia.","acronym":"MMM.","accession":"DI-03415","synonyms":"Agnogenic myeloid metaplasia.; Agnogenic myeloid metaplasia with myelofibrosis.; AMMM.; Myelosclerosis with myeloid metaplasia.; ","cross_references":"MeSH; D009191.","definition":"A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. ","keywords":null},{"identifier":"Rhizomelic chondrodysplasia punctata 3.","acronym":"RCDP3.","accession":"DI-01003","synonyms":"AGPS deficiency.; Alkyldihydroxyacetonephosphate synthase deficiency.; Alkylglycerone-phosphate synthase deficiency.; Rhizomelic chondrodysplasia punctata, type 3.; ","cross_references":"MeSH; D018902.","definition":"A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe intellectual disability with spasticity. ","keywords":"KW-0685:Rhizomelic chondrodysplasia punctata.; "},{"identifier":"Neutropenia, severe congenital 3, autosomal recessive.","acronym":"SCN3.","accession":"DI-01257","synonyms":"Agranulocytosis infantile.; Kostmann disease.; ","cross_references":"MeSH; D009503.","definition":"A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Some patients affected by severe congenital neutropenia type 3 have neurological manifestations such as psychomotor retardation and seizures. ","keywords":null},{"identifier":"Hypotrichosis 7.","acronym":"HYPT7.","accession":"DI-01177","synonyms":"AH.; Alopecia universalis congenita Mari type.; Hypotrichosis autosomal recessive.; Hypotrichosis localized autosomal recessive 2.; LAH2.; Total hypotrichosis Mari type.; ","cross_references":"MeSH; D007039.","definition":"A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. HYPT7 inheritance is autosomal recessive. ","keywords":"KW-1063:Hypotrichosis.; "},{"identifier":"Anhaptoglobinemia.","acronym":"AHP.","accession":"DI-03152","synonyms":"Ahaptoglobinemia.; Hypohaptoglobinemia.; ","cross_references":"MeSH; D001796.","definition":"A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions. ","keywords":null},{"identifier":"Monocarboxylate transporter 8 deficiency.","acronym":"MCT8 deficiency.","accession":"DI-01993","synonyms":"AHDS.; Allan-Herndon-Dudley syndrome.; ","cross_references":"MedGen; C0795889.","definition":"Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. ","keywords":null},{"identifier":"Mitochondrial DNA depletion syndrome 4A.","acronym":"MTDPS4A.","accession":"DI-00079","synonyms":"AHS.; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis.; Alpers-Huttenlocher syndrome.; Alpers progressive infantile poliodystrophy.; Alpers syndrome.; Mitochondrial DNA depletion syndrome 4A Alpers type.; Neuronal degeneration of childhood with liver disease progressive.; PNDC.; ","cross_references":"MeSH; D002549.","definition":"An autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. ","keywords":"KW-0523:Neurodegeneration.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Hemolytic uremic syndrome, atypical, 1.","acronym":"AHUS1.","accession":"DI-01704","synonyms":"AHUS.; Atypical hemolytic uremic syndrome with H factor anomaly.; D(-)HUS.; Hemolytic-uremic syndrome.; Hemolytic-uremic syndrome without diarrhea.; ","cross_references":"MeSH; D065766.","definition":"An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. ","keywords":"KW-1068:Hemolytic uremic syndrome.; "},{"identifier":"Asthma, with nasal polyps and aspirin intolerance.","acronym":"ANPAI.","accession":"DI-02739","synonyms":"AIA.; ASA triad.; Aspirin-intolerant asthma.; Asthma and nasal polyps.; Asthma aspirin-induced.; Nasal polyps asthma and aspirin sensitivity.; Samter triad.; ","cross_references":"MeSH; D055963.","definition":"A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities. ","keywords":"KW-1058:Asthma.; "},{"identifier":"AICA-ribosuria due to ATIC deficiency.","acronym":"AICAR.","accession":"DI-00065","synonyms":"AICA-ribosiduria due to ATIC deficiency.; AICAR transformylase/IMP cyclohydrolase deficiency.; ATIC deficiency.; ","cross_references":"MeSH; D011686.","definition":"A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. Clinical features include profound intellectual disability, epilepsy, dysmorphic features and congenital blindness. AICAR inheritance is autosomal recessive. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Salt and pepper developmental regression syndrome.","acronym":"SPDRS.","accession":"DI-00096","synonyms":"AIES.; Amish infantile epilepsy syndrome.; Epilepsy syndrome infantile-onset symptomatic.; GM3 synthase deficiency.; ","cross_references":"MeSH; D004827.","definition":"A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "}]}