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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1020&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=980&ordering=synonyms",
"results": [
{
"identifier": "Crouzon syndrome.",
"acronym": "CS.",
"accession": "DI-00383",
"synonyms": "CFD1.; Craniofacial dysostosis type I.; Crouzon craniofacial dysostosis.; ",
"cross_references": "MeSH; D003394.",
"definition": "An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Complement factor H deficiency.",
"acronym": "CFHD.",
"accession": "DI-01377",
"synonyms": "CFH deficiency.; Factor H deficiency.; ",
"cross_references": "MeSH; D007154.",
"definition": "A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. ",
"keywords": null
},
{
"identifier": "Nemaline myopathy 7.",
"acronym": "NEM7.",
"accession": "DI-02037",
"synonyms": "CFL2-related nemaline myopathy.; Nemaline myopathy 7, autosomal recessive.; ",
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Craniofrontonasal syndrome.",
"acronym": "CFNS.",
"accession": "DI-01443",
"synonyms": "CFND.; Craniofrontonasal dysostosis.; Craniofrontonasal dysplasia.; ",
"cross_references": "MeSH; D019465.",
"definition": "X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Carey-Fineman-Ziter syndrome 1.",
"acronym": "CFZS1.",
"accession": "DI-05049",
"synonyms": "CFZ syndrome.; Congenital non-progressive myopathy with Moebius and Robin sequences.; Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence.; ",
"cross_references": "MeSH; D020331.",
"definition": "An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high- arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive. ",
"keywords": null
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 11.",
"acronym": "PBD-CG11.",
"accession": "DI-00920",
"synonyms": "CG11.; PBD-CGR.; Peroxisome biogenesis disorder complementation group R.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 12.",
"acronym": "PBD-CG12.",
"accession": "DI-00921",
"synonyms": "CG12.; PBD-CGG.; Peroxisome biogenesis disorder complementation group G.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 13.",
"acronym": "PBD-CG13.",
"accession": "DI-02153",
"synonyms": "CG13.; PBD-CGH.; Peroxisome biogenesis disorder complementation group H.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 14.",
"acronym": "PBD-CG14.",
"accession": "DI-00922",
"synonyms": "CG14.; PBD-CGJ.; Peroxisome biogenesis disorder complementation group J.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 1.",
"acronym": "PBD-CG1.",
"accession": "DI-00913",
"synonyms": "CG1.; PBD-CGE.; Peroxisome biogenesis disorder complementation group E.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 2.",
"acronym": "PBD-CG2.",
"accession": "DI-03578",
"synonyms": "CG1.; PBD-CGE.; Peroxisome biogenesis disorder complementation group E.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 3.",
"acronym": "PBD-CG3.",
"accession": "DI-00914",
"synonyms": "CG3.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 4.",
"acronym": "PBD-CG4.",
"accession": "DI-00915",
"synonyms": "CG4.; PBD-CG6.; PBD-CGC.; Peroxisome biogenesis disorder complementation group 6.; Peroxisome biogenesis disorder complementation group C.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 5.",
"acronym": "PBD-CG5.",
"accession": "DI-00916",
"synonyms": "CG5.; PBD-CG10.; PBD-CGF.; Peroxisome biogenesis disorder complementation group 10.; Peroxisome biogenesis disorder complementation group F.; Zellweger syndrome 3.; ZWS3.; ",
"cross_references": "MeSH; D015211.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 7.",
"acronym": "PBD-CG7.",
"accession": "DI-00917",
"synonyms": "CG7.; PBD-CGB.; Peroxisome biogenesis disorder complementation group B.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 8.",
"acronym": "PBD-CG8.",
"accession": "DI-00918",
"synonyms": "CG8.; PBD-CGA.; Peroxisome biogenesis disorder complementation group A.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Peroxisome biogenesis disorder complementation group 9.",
"acronym": "PBD-CG9.",
"accession": "DI-00919",
"synonyms": "CG9.; PBD-CGD.; Peroxisome biogenesis disorder complementation group D.; ",
"cross_references": "MeSH; D018901.",
"definition": "A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). ",
"keywords": "KW-0958:Peroxisome biogenesis disorder.; "
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 3.",
"acronym": "CGD3.",
"accession": "DI-03170",
"synonyms": "CGD autosomal recessive cytochrome b-positive type III.; Chronic granulomatous disease autosomal recessive cytochrome b-positive type III.; Granulomatous disease chronic due to NCF4 deficiency.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Granulomatous disease, chronic, autosomal recessive, 4.",
"acronym": "CGD4.",
"accession": "DI-00304",
"synonyms": "CGD due to deficiency of alpha subunit of cytochrome b.; Chronic granulomatous disease autosomal recessive cytochrome b-negative.; CYBA deficiency.; Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive.; ",
"cross_references": "MeSH; D006105.",
"definition": "A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. ",
"keywords": "KW-0161:Chronic granulomatous disease.; "
},
{
"identifier": "Myofibromatosis, infantile 1.",
"acronym": "IMF1.",
"accession": "DI-03815",
"synonyms": "CGF.; Congenital generalized fibromatosis.; Juvenile myofibromatosis.; ",
"cross_references": "MeSH; D018224.",
"definition": "A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about half of the patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Visceral lesions are associated with high morbidity and mortality. ",
"keywords": null
}
]
}