HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1340&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1300&ordering=synonyms",
"results": [
{
"identifier": "Muscular dystrophy congenital due to integrin alpha-7 deficiency.",
"acronym": "MDCI.",
"accession": "DI-02701",
"synonyms": "Congenital myopathy due to integrin alpha-7 deficiency.; ",
"cross_references": "MeSH; D009136.",
"definition": "A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Congenital myopathy 13.",
"acronym": "CMYP13.",
"accession": "DI-03974",
"synonyms": "Congenital myopathy with cleft palate and malignant hyperthermia.; Myopathy, congenital, Bailey-Bloch.; MYPBB.; NAM.; Native American myopathy.; ",
"cross_references": "MeSH; D009135.",
"definition": "An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. ",
"keywords": null
},
{
"identifier": "Myosclerosis autosomal recessive.",
"acronym": "MYOSAR.",
"accession": "DI-01246",
"synonyms": "Congenital myosclerosis of Lowenthal.; Myosclerotic myopathy.; ",
"cross_references": "MeSH; D003286.",
"definition": "A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. ",
"keywords": null
},
{
"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
},
{
"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": "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": "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, 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, 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": "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": "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": "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": "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": "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 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": "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": "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": "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": "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 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
}
]
}