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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1300&ordering=-synonyms",
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"results": [
{
"identifier": "Anorexia nervosa.",
"acronym": "ANON.",
"accession": "DI-04568",
"synonyms": null,
"cross_references": "MeSH; D000856.",
"definition": "An eating disorder characterized by the lack or loss of appetite, excess fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 15.",
"acronym": "DFNA15.",
"accession": "DI-00844",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Anterior segment anomalies with or without cataract.",
"acronym": "ASA.",
"accession": "DI-03442",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract. ",
"keywords": null
},
{
"identifier": "Cornelia de Lange syndrome 5.",
"acronym": "CDLS5.",
"accession": "DI-03541",
"synonyms": null,
"cross_references": "MeSH; D003635.",
"definition": "A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 68.",
"acronym": "DFNA68.",
"accession": "DI-04600",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss with postlingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 67.",
"acronym": "DFNA67.",
"accession": "DI-04416",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Episodic pain syndrome, familial, 2.",
"acronym": "FEPS2.",
"accession": "DI-03973",
"synonyms": null,
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 71.",
"acronym": "DFNA71.",
"accession": "DI-05058",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA71 is characterized by bilateral mild to moderate hearing loss before age 20 years, which gradually progresses to severe to profound hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 76.",
"acronym": "DFNA76.",
"accession": "DI-05762",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic deafness characterized by mild to profound sensorineural hearing loss and variable age at onset. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Crouzon syndrome with acanthosis nigricans.",
"acronym": "CAN.",
"accession": "DI-01453",
"synonyms": null,
"cross_references": "MedGen; C2677099.",
"definition": "Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. ",
"keywords": null
},
{
"identifier": "Bone marrow failure and diabetes mellitus syndrome.",
"acronym": "BMFDMS.",
"accession": "DI-06507",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Deafness, autosomal dominant, 72.",
"acronym": "DFNA72.",
"accession": "DI-05059",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Complement factor I deficiency.",
"acronym": "CFI deficiency.",
"accession": "DI-01378",
"synonyms": null,
"cross_references": "MedGen; C3463916.",
"definition": "Autosomal recessive condition associated with a propensity to pyogenic infections. ",
"keywords": null
},
{
"identifier": "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.",
"acronym": "CHAPLE.",
"accession": "DI-05079",
"synonyms": null,
"cross_references": "MeSH; D013927.",
"definition": "An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a. ",
"keywords": null
},
{
"identifier": "Cone dystrophy 3.",
"acronym": "COD3.",
"accession": "DI-00317",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ",
"keywords": null
},
{
"identifier": "Cone dystrophy 4.",
"acronym": "COD4.",
"accession": "DI-02491",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 3.",
"acronym": "BMFS3.",
"accession": "DI-04752",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, punctiform and polychromatic pre-Descemet.",
"acronym": "PPPCD.",
"accession": "DI-06421",
"synonyms": null,
"cross_references": "MeSH; D003317.",
"definition": "An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Bone marrow failure syndrome 4.",
"acronym": "BMFS4.",
"accession": "DI-05333",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Iminoglycinuria.",
"acronym": "IG.",
"accession": "DI-02940",
"synonyms": null,
"cross_references": "MeSH; D000608.",
"definition": "A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. ",
"keywords": null
}
]
}