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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6660&ordering=synonyms",
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"results": [
{
"identifier": "Waardenburg syndrome 2F.",
"acronym": "WS2F.",
"accession": "DI-06468",
"synonyms": null,
"cross_references": "MeSH; D014849.",
"definition": "A form of Waardenburg syndrome, an auditory-pigmentary disorder characterized by sensorineural deafness, pigmentary disturbances of the hair, skin and eyes, and absence of dystopia canthorum which is the lateral displacement of the inner canthus of each eye. WS2F is an autosomal recessive form with variable expressivity, characterized by congenital or neonatal-onset sensorineural hearing loss. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Odontochondrodysplasia 2 with hearing loss and diabetes.",
"acronym": "ODCD2.",
"accession": "DI-06079",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive disorder characterized by dentinogenesis imperfecta, delayed tooth eruption, growth retardation with proportionate short stature, skeletal abnormalities, and dysmorphic facies in association with insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Oculopharyngodistal myopathy 4.",
"acronym": "OPDM4.",
"accession": "DI-06365",
"synonyms": null,
"cross_references": "MeSH; D039141.",
"definition": "A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM4 is an autosomal dominant form characterized by slow progression and onset of symptoms in the second or third decades. ",
"keywords": null
},
{
"identifier": "Oculopharyngodistal myopathy 3.",
"acronym": "OPDM3.",
"accession": "DI-06192",
"synonyms": null,
"cross_references": "MeSH; D039141.",
"definition": "A form of oculopharyngodistal myopathy, a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. In addition to muscular features, OPDM3 patients may develop pigmentary retinopathy, peripheral neuropathy, or hearing loss. Cognition is usually not affected, but there may be deficits or psychiatric manifestations. Brain imaging tends to show a leukoencephalopathy, often with a characteristic linear signal along the corticomedullary junction on brain imaging. OPDM3 is a slowly progressive form with an autosomal dominant transmission pattern, and variable age at onset ranging from childhood to late adulthood. ",
"keywords": null
},
{
"identifier": "Oculopharyngodistal myopathy 2.",
"acronym": "OPDM2.",
"accession": "DI-05872",
"synonyms": null,
"cross_references": "MeSH; D039141.",
"definition": "A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM2 inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Oculopharyngeal muscular dystrophy 2.",
"acronym": "OPMD2.",
"accession": "DI-06737",
"synonyms": null,
"cross_references": "MeSH; D039141.",
"definition": "An autosomal dominant, early-onset myopathy characterized by progressive muscle weakness, ptosis, ophthalmoplegia, dysphagia, and variable degrees of respiratory insufficiency. ",
"keywords": null
},
{
"identifier": "Oculomotor-abducens synkinesis.",
"acronym": "OCABSN.",
"accession": "DI-06034",
"synonyms": null,
"cross_references": "MeSH; D046608.",
"definition": "An autosomal recessive disorder characterized by ptosis and elevation of the eyelid on ipsilateral abduction. OCABSN features are consistent with abnormal innervation of the levator palpebrae superioris muscle, which raises the eyelid, and the lateral rectus muscle, which controls lateral eye movement. ",
"keywords": null
},
{
"identifier": "Oculogastrointestinal neurodevelopmental syndrome.",
"acronym": "OGIN.",
"accession": "DI-06103",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by growth deficits, microcephaly, global developmental delay, hearing loss, and microphthalmia and/or coloboma. Other congenital anomalies include imperforate anus, horseshoe kidney, and structural cardiac defects. Some patients have been reported with normal motor and cognitive development. ",
"keywords": "KW-0209:Deafness.; KW-1013:Microphthalmia.; "
},
{
"identifier": "Obesity, hyperphagia, and developmental delay.",
"acronym": "OBHD.",
"accession": "DI-03120",
"synonyms": null,
"cross_references": "MeSH; D009765.",
"definition": "A disorder characterized by early-onset obesity, hyperphagia, and severe developmental delay in motor function, speech, and language. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Obesity and hypopigmentation.",
"acronym": "OBHP.",
"accession": "DI-06589",
"synonyms": null,
"cross_references": "MeSH; D009765.",
"definition": "An autosomal dominant disorder characterized by early-onset obesity, overgrowth, hyperinsulinemia, and hypopigmentation of the skin. Some affected individuals experience hyperphagia and exhibit reduced energy expenditure. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Warburg micro syndrome 4.",
"acronym": "WARBM4.",
"accession": "DI-04041",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg-Cinotti syndrome.",
"acronym": "WRCN.",
"accession": "DI-05476",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro- osteolysis. ",
"keywords": null
},
{
"identifier": "Obesity.",
"acronym": "OBESITY.",
"accession": "DI-01221",
"synonyms": null,
"cross_references": "MeSH; D009765.",
"definition": "A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Warsaw breakage syndrome.",
"acronym": "WBRS.",
"accession": "DI-02764",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. ",
"keywords": null
},
{
"identifier": "O'Donnell-Luria-Rodan syndrome.",
"acronym": "ODLURO.",
"accession": "DI-05620",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Nystagmus 8, congenital, autosomal recessive.",
"acronym": "NYS8.",
"accession": "DI-06638",
"synonyms": null,
"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. NYS8 patients manifest bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal. ",
"keywords": null
},
{
"identifier": "Nystagmus 6, congenital, X-linked.",
"acronym": "NYS6.",
"accession": "DI-02828",
"synonyms": null,
"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": "North American Indian childhood cirrhosis.",
"acronym": "NAIC.",
"accession": "DI-02080",
"synonyms": null,
"cross_references": "MedGen; C1858051.",
"definition": "Severe autosomal recessive intrahepatic cholestasis, originally described in Ojibway-Cree children from northwestern Quebec. NAIC typically presents with transient neonatal jaundice, in a child who is otherwise healthy, and progresses to biliary cirrhosis and portal hypertension. Biochemical and histopathological features suggest involvement of the bile ducts rather than of the bile canaliculi. They include elevated gamma glutamyltransferase and alkaline phosphatase levels, and, typically, marked fibrosis around bile ducts. Clinically, NAIC is distinct from other nonsyndromic familial cholestases because of its marked cholangiopathic features and severe degree of fibrosis on liver histology. ",
"keywords": null
},
{
"identifier": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.",
"acronym": "NSLL.",
"accession": "DI-02913",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by a phenotype reminiscent of Noonan syndrome. Clinical features are highly variable, including facial dysmorphism, short neck, developmental delay, hyperextensible joints and thorax abnormalities with widely spaced nipples. The facial features consist of triangular face with hypertelorism, large low-set ears, ptosis, and flat nasal bridge. Some patients manifest cardiac defects. Some have an increased risk for certain malignancies, particularly juvenile myelomonocytic leukemia. ",
"keywords": null
},
{
"identifier": "Weill-Marchesani syndrome 3.",
"acronym": "WMS3.",
"accession": "DI-03526",
"synonyms": null,
"cross_references": "MeSH; D056846.",
"definition": "A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}