Human Disease List
GET /api/human_diseases/?format=api&offset=2640&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2660&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2620&ordering=-identifier", "results": [ { "identifier": "Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.", "acronym": "MSCCA.", "accession": "DI-04103", "synonyms": null, "cross_references": "MeSH; D012640.", "definition": "A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. ", "keywords": "KW-0887:Epilepsy.; KW-0905:Primary microcephaly.; " }, { "identifier": "Microcephaly, postnatal progressive, with seizures and brain atrophy.", "acronym": "MCPHSBA.", "accession": "DI-02983", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. ", "keywords": null }, { "identifier": "Microcephaly-micromelia syndrome.", "acronym": "MIMIS.", "accession": "DI-05053", "synonyms": null, "cross_references": "MeSH; D017880.", "definition": "A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period. ", "keywords": null }, { "identifier": "Microcephaly, growth restriction, and increased sister chromatid exchange 2.", "acronym": "MGRISCE2.", "accession": "DI-05320", "synonyms": null, "cross_references": "MeSH; D049914.", "definition": "An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Microcephaly, growth deficiency, seizures, and brain malformations.", "acronym": "MIGSB.", "accession": "DI-05506", "synonyms": null, "cross_references": "MeSH; D054220.", "definition": "An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency, microcephaly, facial dysmorphism, early-onset seizures, brain malformations such as partial agenesis of the corpus callosum and simplified gyration, and poor or absent psychomotor development. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome.", "acronym": "MFRG.", "accession": "DI-05346", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures. ", "keywords": "KW-0905:Primary microcephaly.; " }, { "identifier": "Microcephaly, epilepsy, and diabetes syndrome 2.", "acronym": "MEDS2.", "accession": "DI-06083", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "An autosomal recessive disorder characterized by neonatal or early- onset diabetes, severe microcephaly, and epilepsy. ", "keywords": "KW-0219:Diabetes mellitus.; KW-0887:Epilepsy.; " }, { "identifier": "Microcephaly, epilepsy, and diabetes syndrome 1.", "acronym": "MEDS1.", "accession": "DI-03273", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. ", "keywords": "KW-0219:Diabetes mellitus.; KW-0887:Epilepsy.; " }, { "identifier": "Microcephaly, developmental delay, and brittle hair syndrome.", "acronym": "MDBH.", "accession": "DI-05847", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive disorder characterized by developmental delay, motor and cognitive disabilities, brittle hair and nails, failure to thrive, and short stature. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Microcephaly, congenital cataract, and psoriasiform dermatitis.", "acronym": "MCCPD.", "accession": "DI-04663", "synonyms": "SC4MOL deficiency.; ", "cross_references": "MeSH; D008052.", "definition": "An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.", "acronym": "MCIDDS.", "accession": "DI-05464", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive syndrome characterized by cognitive impairment, attention deficit-hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. ", "keywords": "KW-0898:Cataract.; KW-0991:Intellectual disability.; KW-1023:Dystonia.; " }, { "identifier": "Microcephaly-capillary malformation syndrome.", "acronym": "MICCAP.", "accession": "DI-03797", "synonyms": null, "cross_references": "MeSH; D054079.", "definition": "A congenital disorder characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay, and multiple small capillary malformations spread diffusely on the body. Additional more variable features include dysmorphic facial features, distal limb abnormalities, and mild heart defects. ", "keywords": null }, { "identifier": "Microcephaly and chorioretinopathy, autosomal recessive, 3.", "acronym": "MCCRP3.", "accession": "DI-04411", "synonyms": null, "cross_references": "MeSH; D012164.", "definition": "A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties. ", "keywords": null }, { "identifier": "Microcephaly and chorioretinopathy, autosomal recessive, 2.", "acronym": "MCCRP2.", "accession": "DI-04299", "synonyms": null, "cross_references": "MeSH; D012164.", "definition": "A severe disorder characterized by microcephaly, delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Microcephaly and chorioretinopathy, autosomal recessive, 1.", "acronym": "MCCRP1.", "accession": "DI-03393", "synonyms": null, "cross_references": "MeSH; D012164.", "definition": "A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. ", "keywords": null }, { "identifier": "Microcephaly, Amish type.", "acronym": "MCPHA.", "accession": "DI-00750", "synonyms": "Amish lethal microcephaly.; ", "cross_references": "MeSH; D008831.", "definition": "A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. ", "keywords": null }, { "identifier": "Microcephaly 9, primary, autosomal recessive.", "acronym": "MCPH9.", "accession": "DI-03546", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ", "keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; " }, { "identifier": "Microcephaly 8, primary, autosomal recessive.", "acronym": "MCPH8.", "accession": "DI-03470", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ", "keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; " }, { "identifier": "Microcephaly 7, primary, autosomal recessive.", "acronym": "MCPH7.", "accession": "DI-00753", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ", "keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; " }, { "identifier": "Microcephaly 6, primary, autosomal recessive.", "acronym": "MCPH6.", "accession": "DI-02207", "synonyms": null, "cross_references": "MeSH; D008831.", "definition": "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have moderate intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. ", "keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; " } ] }