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=780&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=740&ordering=synonyms",
"results": [
{
"identifier": "Barber-Say syndrome.",
"acronym": "BBRSAY.",
"accession": "DI-04543",
"synonyms": "BSS.; Hypertrichosis, atrophic skin, ectropion, and macrostomia.; ",
"cross_references": "MeSH; D012868.",
"definition": "A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Brooke-Spiegler syndrome.",
"acronym": "BRSS.",
"accession": "DI-00201",
"synonyms": "BSS.; SBS.; Spiegler-Brooke syndrome.; ",
"cross_references": "MeSH; D018280.",
"definition": "An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections.",
"acronym": "HIES1.",
"accession": "DI-01767",
"synonyms": "Buckley syndrome.; HIES autosomal dominant.; Hyper-IgE recurrent infection syndrome 1, autosomal dominant.; Hyper-IgE recurrent infection syndrome autosomal dominant.; Hyper-IgE syndrome autosomal dominant.; Hyperimmunoglobulin E syndrome type 1.; Job syndrome.; ",
"cross_references": "MeSH; D007589.",
"definition": "A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures. ",
"keywords": null
},
{
"identifier": "Fazio-Londe disease.",
"acronym": "FALOND.",
"accession": "DI-03010",
"synonyms": "Bulbar palsy progressive of childhood.; Fazio-Londe syndrome.; ",
"cross_references": "MeSH; D010244.",
"definition": "A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. ",
"keywords": null
},
{
"identifier": "Brown-Vialetto-Van Laere syndrome 1.",
"acronym": "BVVLS1.",
"accession": "DI-02727",
"synonyms": "Bulbar palsy progressive with sensorineural deafness.; Pontobulbar palsy with deafness.; ",
"cross_references": "MeSH; D010244.",
"definition": "A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Spinal and bulbar muscular atrophy X-linked 1.",
"acronym": "SMAX1.",
"accession": "DI-01053",
"synonyms": "Bulbospinal muscular atrophy X-linked.; Bulbospinal neuronopathy X-linked recessive.; KD.; Kennedy disease.; Kennedy spinal and bulbar muscular atrophy.; SBMA.; Spinal and bulbar muscular atrophy.; XBSN.; ",
"cross_references": "MeSH; D014897.",
"definition": "An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Simpson-Golabi-Behmel syndrome 1.",
"acronym": "SGBS1.",
"accession": "DI-02307",
"synonyms": "Bulldog syndrome.; DGSX.; Dysplasia gigantism syndrome X-linked.; Golabi-Rosen syndrome.; SDYS.; Simpson dysmorphia syndrome.; ",
"cross_references": "MeSH; D001848.",
"definition": "A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent. ",
"keywords": null
},
{
"identifier": "Kindler syndrome.",
"acronym": "KNDLRS.",
"accession": "DI-01865",
"synonyms": "Bullous acrokeratotic poikiloderma of Kindler and Weary.; Poikiloderma congenital with bullae Weary type.; Poikiloderma hereditary acrokeratotic.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. ",
"keywords": null
},
{
"identifier": "Progressive familial heart block 1A.",
"acronym": "PFHB1A.",
"accession": "DI-00948",
"synonyms": "Bundle branch block.; Cardiac conduction defect.; HBBD.; Hereditary bundle branch system defect.; Lenegre-Lev disease.; PCCD.; PFHBIA.; Progressive cardiac conduction defect.; Progressive familial heart block type I.; Progressive familial heart block type IA.; ",
"cross_references": "MeSH; D002037.",
"definition": "A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. ",
"keywords": null
},
{
"identifier": "Glaucoma 3, primary congenital, A.",
"acronym": "GLC3A.",
"accession": "DI-00935",
"synonyms": "Buphthalmos.; Congenital glaucoma.; Glaucoma, primary open angle, adult-onset.; Glaucoma, primary open angle, juvenile-onset.; Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset.; GLC3.; Primary congenital glaucoma 3A.; Primary infantile glaucoma type 3A.; ",
"cross_references": "MeSH; D005901.",
"definition": "An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Burkitt lymphoma.",
"acronym": "BL.",
"accession": "DI-02613",
"synonyms": "Burkitt tumor.; ",
"cross_references": "MeSH; D002051.",
"definition": "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. ",
"keywords": null
},
{
"identifier": "Macular dystrophy, patterned, 1.",
"acronym": "MDPT1.",
"accession": "DI-00902",
"synonyms": "Butterfly dystrophy of retinal pigment epithelium.; Macular dystrophy, butterfly-shaped pigmentary.; Patterned dystrophy of retinal pigment epithelium.; ",
"cross_references": "MeSH; D058499.",
"definition": "A form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 1.",
"acronym": "PFIC1.",
"accession": "DI-00949",
"synonyms": "Byler disease.; Fatal intrahepatic cholestasis.; ",
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Angioedema, hereditary, 1.",
"acronym": "HAE1.",
"accession": "DI-00543",
"synonyms": "C1 esterase inhibitor deficiency.; HANE.; Hereditary angioneurotic edema.; ",
"cross_references": "MeSH; D054179.",
"definition": "An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional. ",
"keywords": null
},
{
"identifier": "Complement component C1s deficiency.",
"acronym": "C1SD.",
"accession": "DI-02293",
"synonyms": "C1s deficiency.; ",
"cross_references": "MeSH; D007105.",
"definition": "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. ",
"keywords": null
},
{
"identifier": "Complement component 2 deficiency.",
"acronym": "C2D.",
"accession": "DI-01306",
"synonyms": "C2 deficiency.; ",
"cross_references": "MeSH; D007105.",
"definition": "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections. ",
"keywords": null
},
{
"identifier": "Complement component 3 deficiency.",
"acronym": "C3D.",
"accession": "DI-01307",
"synonyms": "C3 deficiency autosomal recessive.; Complement component 3 deficiency autosomal recessive.; ",
"cross_references": "MeSH; D007154.",
"definition": "A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis. ",
"keywords": null
},
{
"identifier": "Complement component 4A deficiency.",
"acronym": "C4AD.",
"accession": "DI-01308",
"synonyms": "C4A deficiency.; ",
"cross_references": "MeSH; D007105.",
"definition": "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis. ",
"keywords": null
},
{
"identifier": "Complement component 4B deficiency.",
"acronym": "C4BD.",
"accession": "DI-03321",
"synonyms": "C4B deficiency.; ",
"cross_references": "MeSH; D007105.",
"definition": "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis. ",
"keywords": null
},
{
"identifier": "Complement component 5 deficiency.",
"acronym": "C5D.",
"accession": "DI-01372",
"synonyms": "C5 deficiency.; ",
"cross_references": "MeSH; D007154.",
"definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ",
"keywords": null
}
]
}