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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3740&ordering=-synonyms",
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"results": [
{
"identifier": "Facial clefting, oblique, 1.",
"acronym": "OBLFC1.",
"accession": "DI-03222",
"synonyms": "Oblique facial cleft.; Oculomaxillofacial dysplasia with oblique facial clefts.; Orbitofacial cleft.; ",
"cross_references": "MeSH; D019767.",
"definition": "A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face. ",
"keywords": null
},
{
"identifier": "Osteoarthritis 1.",
"acronym": "OS1.",
"accession": "DI-02641",
"synonyms": "OA.; Osteoarthritis of hip female-specific.; Osteoarthrosis.; ",
"cross_references": "MeSH; D010003.",
"definition": "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ",
"keywords": null
},
{
"identifier": "Nystagmus 1, congenital, X-linked.",
"acronym": "NYS1.",
"accession": "DI-02439",
"synonyms": "Nystagmus 1 infantile X-linked.; Nystagmus congenital motor 1.; Nystagmus infantile idiopathic.; Nystagmus infantile periodic alternating X-linked.; XIPAN.; XLPAN.; ",
"cross_references": "MeSH; D020417.",
"definition": "A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. ",
"keywords": null
},
{
"identifier": "Spastic paraplegia 39, autosomal recessive.",
"acronym": "SPG39.",
"accession": "DI-01049",
"synonyms": "NTEMND.; NTE-related motor neuron disorder.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Hypercholanemia, familial, 2.",
"acronym": "FHCA2.",
"accession": "DI-06067",
"synonyms": "NTCPD.; NTCP deficiency.; ",
"cross_references": "MeSH; D043202.",
"definition": "An autosomal recessive inborn error of metabolism characterized by persistently increased plasma levels of conjugated bile salts apparent from infancy, fat malabsorption and impaired absorption of fat-soluble vitamins, including D and K. Most patients are asymptomatic. Some neonates may have transient jaundice or transiently elevated liver enzymes. ",
"keywords": null
},
{
"identifier": "Glaucoma, normal pressure.",
"acronym": "NPG.",
"accession": "DI-00879",
"synonyms": "Normal tension glaucoma.; NTG.; ",
"cross_references": "MeSH; D005901.",
"definition": "A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Noonan syndrome 2.",
"acronym": "NS2.",
"accession": "DI-05439",
"synonyms": "Noonan syndrome 2, autosomal recessive.; ",
"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. NS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 11.",
"acronym": "DFNA11.",
"accession": "DI-00841",
"synonyms": "Non-syndromic sensorineural deafness autosomal dominant type 11.; ",
"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. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Retinitis pigmentosa.",
"acronym": "RP.",
"accession": "DI-00969",
"synonyms": "Non-syndromic retinitis pigmentosa.; RCD.; Rod-cone dystrophy.; ",
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Retinitis pigmentosa can be inherited as an autosomal dominant, autosomal recessive or X-linked condition. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
},
{
"identifier": "Congenital anomalies of the kidney and urinary tract 1.",
"acronym": "CAKUT1.",
"accession": "DI-04107",
"synonyms": "Non-syndromic renal hypodysplasia 1.; Renal hypodysplasia, nonsyndromic, 1.; RHDNS1.; ",
"cross_references": "MeSH; D014564.",
"definition": "A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal recessive, 93.",
"acronym": "DFNB93.",
"accession": "DI-03553",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 93.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 91.",
"acronym": "DFNB91.",
"accession": "DI-02706",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 91.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by progressive and age- dependent sensorineural hearing loss. Vestibular function is normal. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 79.",
"acronym": "DFNB79.",
"accession": "DI-02596",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 79.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 77.",
"acronym": "DFNB77.",
"accession": "DI-02528",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 77.; ",
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 63.",
"acronym": "DFNB63.",
"accession": "DI-00878",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 63.; Non-syndromic sensorineural deafness autosomal recessive type 63.; ",
"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": "Deafness, autosomal recessive, 61.",
"acronym": "DFNB61.",
"accession": "DI-02548",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 61.; Non-syndromic sensorineural deafness autosomal recessive type 61.; ",
"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": "Deafness, autosomal recessive, 53.",
"acronym": "DFNB53.",
"accession": "DI-00876",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 53.; Non-syndromic sensorineural deafness autosomal recessive type 53.; ",
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive 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": "Deafness, autosomal recessive, 49.",
"acronym": "DFNB49.",
"accession": "DI-00875",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 49.; Non-syndromic sensorineural deafness autosomal recessive type 49.; ",
"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": "Deafness, autosomal recessive, 48.",
"acronym": "DFNB48.",
"accession": "DI-03551",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 48.; Non-syndromic sensorineural deafness autosomal recessive type 48.; ",
"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. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal recessive, 36, with or without vestibular involvement.",
"acronym": "DFNB36.",
"accession": "DI-00873",
"synonyms": "Non-syndromic neurosensory deafness autosomal recessive type 36.; Non-syndromic sensorineural deafness autosomal recessive type 36.; ",
"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. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
}
]
}