{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5400&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5360&ordering=-synonyms","results":[{"identifier":"Deafness, X-linked, 1.","acronym":"DFNX1.","accession":"DI-02690","synonyms":"Congenital sensorineural deafness X-linked 2.; DFN2.; ","cross_references":"MeSH; D006319.","definition":"A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Spondylocarpotarsal synostosis syndrome.","acronym":"SCT.","accession":"DI-02329","synonyms":"Congenital scoliosis with unilateral unsegmented bar.; Congenital synspondylism.; SCT.; Spondylocarpotarsal syndrome.; Vertebral fusion with carpal coalition.; ","cross_references":"MedGen; C1848934.","definition":"Disorder characterized by short stature and vertebral, carpal and tarsal fusions. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 4.","acronym":"SMDP4.","accession":"DI-00963","synonyms":"Congenital pulmonary alveolar proteinosis 4.; CSF2RA deficiency.; PAP.; PAP due to CSF2RA deficiency.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 3.","acronym":"SMDP3.","accession":"DI-00962","synonyms":"Congenital pulmonary alveolar proteinosis 3.; Interstitial lung disease due to ABCA3 deficiency.; PAP.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 2.","acronym":"SMDP2.","accession":"DI-00961","synonyms":"Congenital pulmonary alveolar proteinosis 2.; Desquamative interstitial pneumonitis due to surfactant protein C deficiency.; Interstitial lung disease due to surfactant protein C deficiency.; PAP.; ","cross_references":"MeSH; D011649.","definition":"A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 1.","acronym":"SMDP1.","accession":"DI-00960","synonyms":"Congenital pulmonary alveolar proteinosis 1.; Interstitial lung disease due to surfactant protein B deficiency.; Interstitial lung disease non-specific due to surfactant protein B deficiency.; PAP.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Factor VII deficiency.","acronym":"FA7D.","accession":"DI-01541","synonyms":"Congenital proconvertin deficiency.; F7 deficiency.; Factor 7 deficiency.; Hypoproconvertinemia.; ","cross_references":"MeSH; D005168.","definition":"A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels. ","keywords":null},{"identifier":"Hereditary intrinsic factor deficiency.","acronym":"IFD.","accession":"DI-01720","synonyms":"Congenital pernicious anemia.; ","cross_references":"MedGen; C1394891.","definition":"Autosomal recessive disorder characterized by megaloblastic anemia. ","keywords":null},{"identifier":"Pancreatic agenesis 1.","acronym":"PAGEN1.","accession":"DI-02123","synonyms":"Congenital pancreatic hypoplasia.; PAGEN.; ","cross_references":"MeSH; D010182.","definition":"A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Pancreatic agenesis 2.","acronym":"PAGEN2.","accession":"DI-04182","synonyms":"Congenital pancreatic hypoplasia 2.; ","cross_references":"MeSH; D010188.","definition":"A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin- dependent diabetes mellitus, and exocrine pancreatic insufficiency. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Pancreatic agenesis and congenital heart defects.","acronym":"PACHD.","accession":"DI-03371","synonyms":"Congenital pancreatic agenesis with diabetes mellitus and congenital heart disease.; HDCA.; Heart defects, congenital, and other congenital anomalies.; ","cross_references":"MeSH; D006330.","definition":"An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot. ","keywords":null},{"identifier":"Cataract 41.","acronym":"CTRCT41.","accession":"DI-04010","synonyms":"Congenital nuclear cataract 41.; ","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. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Persistent hyperplastic primary vitreous, autosomal recessive.","acronym":"PHPVAR.","accession":"DI-03277","synonyms":"Congenital non-syndromic retinal non-attachment.; NCRNA.; Persistent fetal vasculature.; Retinal detachment congenital.; Retinal non-attachment and falciform detachment.; RNANC.; ","cross_references":"MeSH; D012163.","definition":"A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. ","keywords":null},{"identifier":"Glycogen storage disease of heart lethal congenital.","acronym":"GSDH.","accession":"DI-01676","synonyms":"Congenital nonlysosomal cardiac glycogenosis.; Phosphorylase kinase deficiency of heart.; ","cross_references":"MedGen; C1849813.","definition":"Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. ","keywords":null},{"identifier":"Deafness, autosomal recessive, 42.","acronym":"DFNB42.","accession":"DI-03029","synonyms":"Congenital neurosensory deafness autosomal recessive 42.; Non-syndromic neurosensory deafness autosomal recessive type 42.; Non-syndromic sensorineural deafness autosomal recessive type 42.; ","cross_references":"MeSH; D006319.","definition":"A prelingual, non-progressive 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, 39.","acronym":"DFNB39.","accession":"DI-02477","synonyms":"Congenital neurosensory deafness autosomal recessive 39.; Non-syndromic neurosensory deafness autosomal recessive type 39.; Non-syndromic sensorineural deafness autosomal recessive type 39.; ","cross_references":"MeSH; D006319.","definition":"A form of profound prelingual 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, 37.","acronym":"DFNB37.","accession":"DI-00874","synonyms":"Congenital neurosensory deafness autosomal recessive 37.; Non-syndromic neurosensory deafness autosomal recessive type 37.; Non-syndromic sensorineural deafness autosomal recessive type 37.; ","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, 12.","acronym":"DFNB12.","accession":"DI-00862","synonyms":"Congenital neurosensory deafness autosomal recessive 12.; Non-syndromic neurosensory deafness autosomal recessive type 12.; Non-syndromic sensorineural deafness autosomal recessive type 12.; ","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":"Ceroid lipofuscinosis, neuronal, 10.","acronym":"CLN10.","accession":"DI-00818","synonyms":"Congenital neuronal ceroid lipofuscinosis.; Neuronal ceroid lipofuscinosis cathepsin d-deficient.; Neuronal ceroid lipofuscinosis due to cathepsin D deficiency.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Vertebral, cardiac, renal, and limb defects syndrome 3.","acronym":"VCRL3.","accession":"DI-05813","synonyms":"Congenital NAD deficiency disorder.; ","cross_references":"MeSH; D000015.","definition":"An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy. ","keywords":null}]}