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=4380&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4340&ordering=identifier",
"results": [
{
"identifier": "Multiple synostoses syndrome 3.",
"acronym": "SYNS3.",
"accession": "DI-02564",
"synonyms": null,
"cross_references": "MeSH; D013580.",
"definition": "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. ",
"keywords": null
},
{
"identifier": "Multiple synostoses syndrome 4.",
"acronym": "SYNS4.",
"accession": "DI-05210",
"synonyms": null,
"cross_references": "MeSH; D013580.",
"definition": "A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Multiple system atrophy 1.",
"acronym": "MSA1.",
"accession": "DI-03867",
"synonyms": null,
"cross_references": "MeSH; D019578.",
"definition": "A progressive neurodegenerative disorder clinically characterized by parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Pathologically, it is characterized by degeneration of striatonigral and olivopontocerebellar structures, and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein or tau. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Mungan syndrome.",
"acronym": "MGS.",
"accession": "DI-05340",
"synonyms": "Pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and cardiac abnormalities.; Visceral neuromyopathy, familial, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities.; ",
"cross_references": "MeSH; D007418.",
"definition": "An autosomal recessive disease characterized by visceral neuromyopathy, intestinal dysmotility and chronic intestinal pseudoobstruction, megaduodenum, long-segment Barrett esophagus, and a variety of cardiac valve or septal defects such as membranous ventricular septal defect, pulmonary and tricuspid valve regurgitation. ",
"keywords": null
},
{
"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": "Muscle hypertrophy.",
"acronym": "MSLHP.",
"accession": "DI-03210",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong. ",
"keywords": null
},
{
"identifier": "Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue.",
"acronym": "MDRCMTT.",
"accession": "DI-04660",
"synonyms": "LGMD2W.; Limb-girdle muscular dystrophy 2W.; Muscular dystrophy, limb-girdle, type 2W.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive muscular dystrophy characterized by childhood- onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, congenital, Davignon-Chauveau type.",
"acronym": "MDCDC.",
"accession": "DI-04800",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive, severe congenital muscular dystrophy characterized by neonatal onset of muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies show multi-minicores, caps and dystrophic lesions. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"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": "Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome.",
"acronym": "MDHLO.",
"accession": "DI-06221",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "An autosomal recessive disorder characterized by early-onset progressive muscle weakness, sensorineural hearing loss, and primary amenorrhea due to ovarian insufficiency. Some patients become wheelchair-bound by the second decade, whereas others have a milder phenotype and maintain independent ambulation into adulthood. Most patients have respiratory insufficiency. ",
"keywords": "KW-0209:Deafness.; KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy congenital LMNA-related.",
"acronym": "MDCL.",
"accession": "DI-02702",
"synonyms": null,
"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": "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, congenital, with cataracts and intellectual disability.",
"acronym": "MDCCAID.",
"accession": "DI-04992",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive form of muscular dystrophy with onset in early childhood and characterized by progressive muscle weakness. Almost all patients also have early-onset cataracts and intellectual disability of varying severity. Some patients have seizures. ",
"keywords": "KW-0898:Cataract.; KW-0912:Congenital muscular dystrophy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Muscular dystrophy, congenital, with or without seizures.",
"acronym": "MYOS.",
"accession": "DI-06571",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive muscular dystrophy characterized by hypotonia and elevated serum creatine kinase levels apparent from birth. Patients have progressive muscle weakness, areflexia, and may develop seizures in early childhood or have abnormal epileptiform findings on electroencephalogram studies. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy, congenital, with rapid progression.",
"acronym": "MDRP.",
"accession": "DI-06855",
"synonyms": null,
"cross_references": "MeSH; D009136.",
"definition": "An autosomal recessive congenital disease that manifests with severely progressive muscular dystrophy, and results in death in infancy or early childhood. Clinical features include hypotonia and poor feeding, delayed motor development, progressive weakness and lethargy, and respiratory insufficiency. Some patients may have refractory epilepsy and cataracts. ",
"keywords": "KW-0912:Congenital muscular dystrophy.; "
},
{
"identifier": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1.",
"acronym": "MDDGA1.",
"accession": "DI-01132",
"synonyms": "Cerebroocular dysgenesis.; Cerebroocular dysplasia-muscular dystrophy syndrome.; COD.; COD-MD syndrome.; HARD +/- E syndrome.; HARD syndrome.; Hydrocephalus-agyria-retinal dysplasia.; MEB.; Muscle-eye-brain disease.; Muscle-eye-brain disease POMT1-related.; Muscular dystrophy due to defective glycosylation of dystroglycan 1A.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.; Walker-Warburg syndrome.; Walker-Warburg syndrome POMT1-related.; Warburg syndrome.; WWS.; ",
"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": "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.; "
}
]
}