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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4920",
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"results": [
{
"identifier": "Night blindness, congenital stationary, Oguchi type 1.",
"acronym": "CSNBO1.",
"accession": "DI-00374",
"synonyms": "Oguchi disease 1.; Oguchi disease-1.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, Oguchi type 2.",
"acronym": "CSNBO2.",
"accession": "DI-02770",
"synonyms": "Oguchi disease 2.; Oguchi disease-2.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Nijmegen breakage syndrome.",
"acronym": "NBS.",
"accession": "DI-02058",
"synonyms": null,
"cross_references": "MeSH; D049932.",
"definition": "A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. ",
"keywords": null
},
{
"identifier": "Nijmegen breakage syndrome-like disorder.",
"acronym": "NBSLD.",
"accession": "DI-02806",
"synonyms": "Microcephaly and spontaneous chromosome instability without immunodeficiency.; NBS-like disorder.; RAD50 deficiency.; ",
"cross_references": "MeSH; D049914.",
"definition": "A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. ",
"keywords": null
},
{
"identifier": "Nivelon-Nivelon-Mabille syndrome.",
"acronym": "NNMS.",
"accession": "DI-05999",
"synonyms": "Chondrodysplasia-pseudohermaphroditism syndrome.; ",
"cross_references": "MeSH; D058490.",
"definition": "An autosomal recessive syndrome characterized by progressive microcephaly, cerebellar vermis hypoplasia, and skeletal dysplasia. Additional variable features include early infantile-onset seizures, intrauterine and postnatal growth retardation, generalized chondrodysplasia, and micromelia. 46,XY gonadal dysgenesis may be present. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Nizon-Isidor syndrome.",
"acronym": "NIZIDS.",
"accession": "DI-05831",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability, global developmental delay, speech impairment, and behavioral abnormalities including autism spectrum disorder and aggressive behavior. Other features include a thin corpus callosum, and mild facial dysmorphism. Disease onset is in infancy or early childhood. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Nonaka myopathy.",
"acronym": "NM.",
"accession": "DI-02070",
"synonyms": "GNE myopathy.; HIBM.; IBM2.; Inclusion body myopathy, hereditary, autosomal recessive.; Inclusion body myopathy, quadriceps-sparing.; Inclusion body myopathy 2, autosomal recessive.; Myopathy, distal, with or without rimmed vacuoles.; Myopathy, distal, with rimmed vacuoles.; Nonaka distal myopathy.; QSM.; ",
"cross_references": "MeSH; D049310.",
"definition": "An autosomal recessive myopathy characterized by early adult onset and progressive distal muscle weakness that preferentially affects the anterior tibial muscles, usually sparing the quadriceps femoris. Some individuals may have involvement of the upper limbs or proximal muscles. Muscle biopsy reveals presence of rimmed vacuoles. ",
"keywords": null
},
{
"identifier": "Non-alcoholic fatty liver disease 1.",
"acronym": "NAFLD1.",
"accession": "DI-02071",
"synonyms": "Hepatic steatosis.; ",
"cross_references": "MeSH; D005234.",
"definition": "A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. ",
"keywords": null
},
{
"identifier": "Non-arteritic anterior ischemic optic neuropathy.",
"acronym": "NAION.",
"accession": "DI-02713",
"synonyms": "AION.; Anterior ischemic optic neuropathy.; ",
"cross_references": "MeSH; D018917.",
"definition": "An autosomal recessive ocular disease due to ischemic injury to the optic nerve. It usually affects the optic disk and leads to visual loss and optic disk swelling of a pallid nature. Visual loss is usually sudden, or over a few days at most and is usually permanent, with some recovery possibly occurring within the first weeks or months. Patients with small disks having smaller or non-existent cups have an anatomical predisposition for non-arteritic anterior ischemic optic neuropathy. As an ischemic episode evolves, the swelling compromises circulation, with a spiral of ischemia resulting in further neuronal damage. ",
"keywords": null
},
{
"identifier": "Non-ketotic hyperglycinemia.",
"acronym": "NKH.",
"accession": "DI-02061",
"synonyms": "GCE.; Glycine encephalopathy.; ",
"cross_references": "MedGen; C0751748.",
"definition": "Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. ",
"keywords": null
},
{
"identifier": "Non-phenylketonuria hyperphenylalaninemia.",
"acronym": "Non-PKU HPA.",
"accession": "DI-02063",
"synonyms": null,
"cross_references": "MedGen; C2678416.",
"definition": "Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 10.",
"acronym": "OFC10.",
"accession": "DI-02972",
"synonyms": "Non-syndromic cleft lip/palate 10.; Non-syndromic cleft lip with or without cleft palate 10.; Orofacial cleft 10.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 11.",
"acronym": "OFC11.",
"accession": "DI-00830",
"synonyms": "CHCL.; Cleft lip congenital healed.; Congenital healed cleft lip.; Non-syndromic cleft lip/palate 11.; Non-syndromic cleft lip with or without cleft palate 11.; Orofacial cleft 11.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 15.",
"acronym": "OFC15.",
"accession": "DI-04616",
"synonyms": null,
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. OFC15 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 5.",
"acronym": "OFC5.",
"accession": "DI-00826",
"synonyms": "Non-syndromic cleft lip/palate 5.; Non-syndromic cleft lip with or without cleft palate 5.; Orofacial cleft 5.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 6.",
"acronym": "OFC6.",
"accession": "DI-00827",
"synonyms": "Non-syndromic cleft lip/palate 6.; Non-syndromic cleft lip with or without cleft palate 6.; Orofacial cleft 6.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Non-syndromic orofacial cleft 7.",
"acronym": "OFC7.",
"accession": "DI-00828",
"synonyms": "Non-syndromic cleft lip/palate 7.; Non-syndromic cleft lip with or without cleft palate 7.; Orofacial cleft 7.; ",
"cross_references": "MeSH; D002971.",
"definition": "A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 1.",
"acronym": "NS1.",
"accession": "DI-02072",
"synonyms": "Female pseudo-Turner syndrome.; Male Turner syndrome.; Noonan-like/multiple giant cell lesion syndrome.; Noonan syndrome.; Noonan syndrome-like disorder with multiple giant cell lesions.; Noonan syndrome with pigmented villonodular synovitis.; Pterygium colli syndrome.; Turner phenotype with normal karyotype.; ",
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 10.",
"acronym": "NS10.",
"accession": "DI-04517",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Noonan syndrome 11.",
"acronym": "NS11.",
"accession": "DI-05614",
"synonyms": null,
"cross_references": "MeSH; D009634.",
"definition": "A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS11 inheritance is autosomal dominant. ",
"keywords": null
}
]
}