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=2860&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2820&ordering=synonyms",
"results": [
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3.",
"acronym": "MDDGA3.",
"accession": "DI-00792",
"synonyms": "Muscle-eye-brain disease POMGNT1-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.; Walker-Warburg syndrome POMGNT1-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2.",
"acronym": "MDDGA2.",
"accession": "DI-02954",
"synonyms": "Muscle-eye-brain disease POMT2-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.; Walker-Warburg syndrome POMT2-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10.",
"acronym": "MDDGA10.",
"accession": "DI-03684",
"synonyms": "Muscle-eye-brain disease TMEM5-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10.; Walker-Warburg syndrome TMEM5-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscle glycogen storage disease 0.",
"acronym": "GSD0b.",
"accession": "DI-02012",
"synonyms": "Muscle glycogen synthase deficiency.; ",
"cross_references": "MedGen; C1969054.",
"definition": "Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work. ",
"keywords": null
},
{
"identifier": "Mulibrey nanism.",
"acronym": "MUL.",
"accession": "DI-02001",
"synonyms": "Muscle-liver-brain-eye nanism.; Perheentupa syndrome.; Pericardial constriction and growth failure.; ",
"cross_references": "MeSH; D050336.",
"definition": "An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4.",
"acronym": "MDDGB4.",
"accession": "DI-02728",
"synonyms": "Muscular dystrophy congenital FKTN-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of intellectual disability. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3.",
"acronym": "MDDGB3.",
"accession": "DI-02961",
"synonyms": "Muscular dystrophy congenital POMGNT1-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1.",
"acronym": "MDDGB1.",
"accession": "DI-02963",
"synonyms": "Muscular dystrophy congenital POMT1-related.; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2.",
"acronym": "MDDGB2.",
"accession": "DI-02955",
"synonyms": "Muscular dystrophy congenital POMT2-related.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy, congenital, megaconial type.",
"acronym": "MDCMC.",
"accession": "DI-05503",
"synonyms": "Muscular dystrophy, congenital, with mitochondrial structural abnormalities.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11.",
"acronym": "MDDGA11.",
"accession": "DI-03747",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11.; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12.",
"acronym": "MDDGA12.",
"accession": "DI-03721",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12.; Walker-Warburg syndrome or muscle-eye-brain disease POMK-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13.",
"acronym": "MDDGA13.",
"accession": "DI-03785",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13.; Walker-Warburg syndrome or muscle-eye-brain disease B3GNT1-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14.",
"acronym": "MDDGA14.",
"accession": "DI-03846",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14.; Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound intellectual disability. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9.",
"acronym": "MDDGA9.",
"accession": "DI-04533",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9.; Walker-Warburg syndrome or muscle-eye brain disease, DAG1-related.; ",
"cross_references": "MeSH; D058494.",
"definition": "An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ",
"keywords": "KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15.",
"acronym": "MDDGB15.",
"accession": "DI-05900",
"synonyms": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15.; ",
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy limb-girdle C12.",
"acronym": "MDDGC12.",
"accession": "DI-04274",
"synonyms": "Muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related.; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; KW-1215:Dystroglycanopathy.; "
},
{
"identifier": "Olmsted syndrome 1.",
"acronym": "OLMS1.",
"accession": "DI-03430",
"synonyms": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques.; ",
"cross_references": "MeSH; D007645.",
"definition": "An autosomal dominant, rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Olmsted syndrome, X-linked.",
"acronym": "OLMSX.",
"accession": "DI-04106",
"synonyms": "Mutilating palmoplantar keratoderma with periorificial keratotic plaques, X-linked.; PPKMX.; ",
"cross_references": "MeSH; D007645.",
"definition": "A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 1.",
"acronym": "MVA1.",
"accession": "DI-01994",
"synonyms": "MVA syndrome.; ",
"cross_references": "MeSH; D025063.",
"definition": "A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. ",
"keywords": null
}
]
}