{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5240&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5200&ordering=-synonyms","results":[{"identifier":"Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.","acronym":"DHS1.","accession":"DI-03801","synonyms":"Dehydrated hereditary stomatocytosis.; DHS.; Familial pseudohyperkalemia 1 due to red cell leak.; Hereditary desiccytosis.; Hereditary xerocytosis.; Pseudohyperkalemia Edinburgh.; PSHK1.; ","cross_references":"MeSH; D000745.","definition":"An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of potassium from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Thrombotic thrombocytopenic purpura, hereditary.","acronym":"TTP.","accession":"DI-01421","synonyms":"Deficiency of Upshaw factor.; Microangiopathic hemolytic anemia.; Microangiopathic hemolytic anemia congenital.; Moschkowitz disease.; Schulman-Upshaw syndrome.; Thrombotic microangiopathy familial.; Thrombotic thrombocytopenic purpura familial.; Upshaw-Schulman syndrome.; USS.; ","cross_references":"MeSH; D011697.","definition":"An autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. ","keywords":null},{"identifier":"Gastrointestinal ulceration, recurrent, with dysfunctional platelets.","acronym":"GURDP.","accession":"DI-05517","synonyms":"Deficiency of phospholipase A2, group IVA.; ","cross_references":"MeSH; D014456.","definition":"An autosomal recessive disorder characterized by recurrent gastrointestinal mucosal ulcers, gastrointestinal bleeding, chronic anemia, iron deficiency, and abdominal pain. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 82.","acronym":"DEE82.","accession":"DI-05722","synonyms":"Deficiency of mitochondrial glutamate oxaloacetate transaminase.; EIEE82.; Epileptic encephalopathy, early infantile, 82.; GOT2 deficiency.; ","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. DEE82 is an autosomal recessive metabolic encephalopathy characterized by epilepsy from the first year of life, global developmental delay, hypotonia and feeding difficulties apparent soon after birth, and intellectual and motor disabilities. Other features include poor overall growth, progressive microcephaly and biochemical abnormalities, including increased serum lactate and ammonia. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Autoinflammatory syndrome, familial, X-linked, Behcet-like 2.","acronym":"AIFBL2.","accession":"DI-06377","synonyms":"Deficiency in ELF4, X-linked.; DEX.; ","cross_references":"MeSH; D056660.","definition":"An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood. ","keywords":null},{"identifier":"Imerslund-Grasbeck syndrome 1.","acronym":"IGS1.","accession":"DI-02246","synonyms":"Defect of enterocyte intrinsic factor receptor.; Enterocyte cobalamin malabsorption.; Megaloblastic anemia, Finnish type.; Megaloblastic anemia 1.; MGA1.; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria.; ","cross_references":"MeSH; D000749.","definition":"A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. ","keywords":null},{"identifier":"Ehlers-Danlos syndrome, spondylodysplastic type, 1.","acronym":"EDSSPD1.","accession":"DI-00435","synonyms":"Defective biosynthesis of PDS.; Defective biosynthesis of proteodermatan sulfate.; EDSP1.; EDSSLA.; Ehlers-Danlos syndrome, progeroid type, 1.; Ehlers-Danlos syndrome with short stature and limb anomalies.; Galactosyltransferase I deficiency.; XGPT deficiency.; Xylosylprotein 4-beta-galactosyltransferase deficiency.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. ","keywords":"KW-0242:Dwarfism.; KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Diaphanospondylodysostosis.","acronym":"DSD.","accession":"DI-03157","synonyms":"Defect in vertebral ossification with nephrogenic rests.; ","cross_references":"MeSH; D004413.","definition":"A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases. ","keywords":null},{"identifier":"Ficolin 3 deficiency.","acronym":"FCN3D.","accession":"DI-03103","synonyms":"Defect in lectin complement activation pathway, 3.; FCN3 deficiency.; Immunodeficiency due to ficolin 3 deficiency.; LCAPD3.; ","cross_references":"MeSH; D007153.","definition":"A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine. ","keywords":null},{"identifier":"MASP2 deficiency.","acronym":"MASPD.","accession":"DI-03105","synonyms":"Defect in lectin complement activation pathway, 2.; LCAPD2.; ","cross_references":"MeSH; D007154.","definition":"A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease. ","keywords":null},{"identifier":"Developmental and epileptic encephalopathy 31A.","acronym":"DEE31A.","accession":"DI-04414","synonyms":"DEE31.; Developmental and epileptic encephalopathy 31.; EIEE31.; Epileptic encephalopathy, early infantile, 31.; ","cross_references":"MeSH; D013036.","definition":"An autosomal dominant 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. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Microcephaly, seizures, and developmental delay.","acronym":"MCSZ.","accession":"DI-02855","synonyms":"DEE10.; Developmental and epileptic encephalopathy 10.; Early infantile epileptic encephalopathy 10.; EIEE10.; ","cross_references":"MeSH; D013036.","definition":"An autosomal recessive neurodevelopmental disorder characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly. ","keywords":"KW-0887:Epilepsy.; KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "},{"identifier":"Peeling skin syndrome 1.","acronym":"PSS1.","accession":"DI-03006","synonyms":"Deciduous skin.; Keratolysis exfoliativa congenita.; Peeling skin syndrome type B.; Skin peeling familial continuous generalized.; ","cross_references":"MeSH; D003873.","definition":"A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels. ","keywords":null},{"identifier":"Pendred syndrome.","acronym":"PDS.","accession":"DI-00905","synonyms":"Deafness with goiter.; Goiter-deafness syndrome.; TDH2B.; Thyroid dyshormonogenesis 2B.; ","cross_references":"MeSH; D006042.","definition":"An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Multiple synostoses syndrome 1.","acronym":"SYNS1.","accession":"DI-02010","synonyms":"Deafness-symphalangism syndrome of Herrmann.; Facioaudiosymphalangism syndrome.; Symphalangism-brachydactyly syndrome.; Synostoses multiple with brachydactyly.; WL syndrome.; ","cross_references":"MeSH; D013580.","definition":"A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. ","keywords":"KW-0209:Deafness.; "},{"identifier":"Deafness, aminoglycoside-induced.","acronym":"DFNI.","accession":"DI-05233","synonyms":"Deafness, streptomycin-induced.; Streptomycin ototoxicity.; ","cross_references":"MeSH; D006319.","definition":"A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, X-linked, 4.","acronym":"DFNX4.","accession":"DI-03162","synonyms":"Deafness nonsyndromic sensorineural progressive 6.; Deafness X-linked 6 progressive.; DFN6.; ","cross_references":"MeSH; D006319.","definition":"A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 9.","acronym":"DFNB9.","accession":"DI-00860","synonyms":"Deafness neurosensory autosomal recessive 9.; Neurosensory nonsyndromic recessive deafness 9.; Non-syndromic neurosensory deafness autosomal recessive type 9.; Non-syndromic recessive hearing loss 9.; NSRD9.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 6.","acronym":"DFNB6.","accession":"DI-00857","synonyms":"Deafness neurosensory autosomal recessive 6.; Neurosensory nonsyndromic recessive deafness 6.; Non-syndromic neurosensory deafness autosomal recessive type 6.; Non-syndromic sensorineural deafness autosomal recessive type 6.; NSRD6.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 4.","acronym":"DFNB4.","accession":"DI-00856","synonyms":"Deafness neurosensory autosomal recessive 4.; Enlarged vestibular aqueduct.; EVA.; Neurosensory nonsyndromic recessive deafness 4.; Non-syndromic neurosensory deafness autosomal recessive type 4.; Non-syndromic sensorineural deafness autosomal recessive type 4.; NSRD4.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB4 is associated with an enlarged vestibular aqueduct. ","keywords":"KW-1010:Non-syndromic deafness.; "}]}