Human Disease List
GET /api/human_diseases/?format=api&offset=2740&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2760&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2720&ordering=-identifier", "results": [ { "identifier": "Melanoma-astrocytoma syndrome.", "acronym": "MASTS.", "accession": "DI-01961", "synonyms": null, "cross_references": "MedGen; C1835042.", "definition": "Characterized by a dual predisposition to melanoma and neural system tumors, commonly astrocytoma. ", "keywords": null }, { "identifier": "Melanocytic nevus syndrome, congenital.", "acronym": "CMNS.", "accession": "DI-04099", "synonyms": "Giant congenital pigmented nevus.; Giant pigmented hairy nevus.; GPHN.; Pigmented moles.; ", "cross_references": "MeSH; D009508.", "definition": "A syndrome characterized by congenital pigmentary skin lesions which can occur at any site and can cover most of the body surface. These lesions may or may not be hairy. Congenital melanocytic nevi are associated with neuromelanosis (the presence of melanin-producing cells within the brain parenchyma or leptomeninges). Less commonly they are associated with malignant melanoma in childhood, both in the skin and the central nervous system. CMNS patients also tend to have a characteristic facial appearance, including wide or prominent forehead, periorbital fullness, small short nose with narrow nasal bridge, round face, full cheeks, prominent premaxilla, and everted lower lip. ", "keywords": null }, { "identifier": "Meier-Gorlin syndrome 8.", "acronym": "MGORS8.", "accession": "DI-05038", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS8 inheritance is autosomal recessive. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 7.", "acronym": "MGORS7.", "accession": "DI-04797", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. MGORS7 inheritance is autosomal recessive. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 6.", "acronym": "MGORS6.", "accession": "DI-04664", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A form of Meier-Gorlin syndrome, a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 5.", "acronym": "MGORS5.", "accession": "DI-03047", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 4.", "acronym": "MGORS4.", "accession": "DI-03046", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 3.", "acronym": "MGORS3.", "accession": "DI-03045", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 2.", "acronym": "MGORS2.", "accession": "DI-03044", "synonyms": null, "cross_references": "MeSH; D008844.", "definition": "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Meier-Gorlin syndrome 1.", "acronym": "MGORS1.", "accession": "DI-03043", "synonyms": "Ear patella short stature syndrome.; EPS.; Microtia absent patellae micrognathia syndrome.; ", "cross_references": "MeSH; D008844.", "definition": "A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "MEHMO syndrome.", "acronym": "MEHMO.", "accession": "DI-05173", "synonyms": "MRXS20.; MRXS25.; MRXSBRK.; ", "cross_references": "MeSH; D038901.", "definition": "An X-linked recessive syndrome characterized by intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity. ", "keywords": "KW-0550:Obesity.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Megalocornea 1, X-linked.", "acronym": "MGC1.", "accession": "DI-03435", "synonyms": "Megalocornea.; MGCN.; ", "cross_references": "MeSH; D003316.", "definition": "An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. ", "keywords": null }, { "identifier": "Megaloblastic anemia, folate-responsive.", "acronym": "MEGAF.", "accession": "DI-06089", "synonyms": "Folate level in erythrocytes.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Disease manifestations include hemolytic anemia, hyperhomocysteinemia, and low vitamin B12. Serum folate levels are normal, but erythrocyte folate levels are decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine. ", "keywords": "KW-0360:Hereditary hemolytic anemia.; " }, { "identifier": "Megaloblastic anemia due to dihydrofolate reductase deficiency.", "acronym": "DHFRD.", "accession": "DI-03110", "synonyms": "DHFR deficiency.; ", "cross_references": "MeSH; D008661.", "definition": "An inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency. Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms. ", "keywords": null }, { "identifier": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3.", "acronym": "MPPH3.", "accession": "DI-04184", "synonyms": null, "cross_references": "MeSH; D058627.", "definition": "A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. ", "keywords": null }, { "identifier": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2.", "acronym": "MPPH2.", "accession": "DI-04183", "synonyms": null, "cross_references": "MeSH; D058627.", "definition": "A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome. ", "keywords": null }, { "identifier": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1.", "acronym": "MPPH1.", "accession": "DI-03625", "synonyms": "Megalencephaly mega corpus callosum and complete lack of motor development.; Megalencephaly-polymicrogyria-mega corpus callosum syndrome.; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.; MEG-PMG-MEGACC syndrome.; MPPH.; ", "cross_references": "MeSH; D058627.", "definition": "A syndrome characterized by megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly- capillary malformation syndrome. ", "keywords": null }, { "identifier": "Megalencephaly-polydactyly syndrome.", "acronym": "MPAPA.", "accession": "DI-06864", "synonyms": null, "cross_references": "MeSH; D058627.", "definition": "An autosomal dominant syndrome characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and increased risk of neuroblastoma. ", "keywords": null }, { "identifier": "Megalencephaly-capillary malformation-polymicrogyria syndrome.", "acronym": "MCAP.", "accession": "DI-03624", "synonyms": "Macrocephaly-capillary malformation.; Macrocephaly-cutis marmorata telangiectatica congenita.; MCM.; MCMTC.; Megalencephaly-capillary malformation syndrome.; Megalencephaly-cutis marmorata telangiectatica congenita.; ", "cross_references": "MeSH; D058627.", "definition": "A syndrome characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria. ", "keywords": null }, { "identifier": "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting.", "acronym": "MLC4.", "accession": "DI-06723", "synonyms": null, "cross_references": "MeSH; D056784.", "definition": "An autosomal recessive disorder characterized by macrocephaly apparent in infancy, developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Brain imaging shows swelling of the cerebral white matter and subcortical cysts in the anterior temporal region. The severity of neurologic dysfunction and brain abnormalities tends to improve with time, indicating a remitting disease course. ", "keywords": null } ] }