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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6260&ordering=synonyms",
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"results": [
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.",
"acronym": "SCAN1.",
"accession": "DI-01064",
"synonyms": null,
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Reducing body myopathy, X-linked 1B, with late childhood or adult onset.",
"acronym": "RBMX1B.",
"accession": "DI-02435",
"synonyms": null,
"cross_references": "MeSH; D009135.",
"definition": "A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. ",
"keywords": null
},
{
"identifier": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.",
"acronym": "SCAN3.",
"accession": "DI-05534",
"synonyms": null,
"cross_references": "MeSH; D013132.",
"definition": "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Recurrent myoglobinuria mitochondrial.",
"acronym": "RM-MT.",
"accession": "DI-02775",
"synonyms": null,
"cross_references": "MeSH; D009212.",
"definition": "Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. ",
"keywords": null
},
{
"identifier": "RECON progeroid syndrome.",
"acronym": "RECON.",
"accession": "DI-06683",
"synonyms": null,
"cross_references": "MeSH; D019588.",
"definition": "An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs. ",
"keywords": null
},
{
"identifier": "Split-foot malformation with mesoaxial polydactyly.",
"acronym": "SFMMP.",
"accession": "DI-04698",
"synonyms": null,
"cross_references": "MeSH; D017689.",
"definition": "An autosomal recessive disorder characterized by a split-foot defect, mesoaxial polydactyly, nail abnormalities of the hands, and sensorineural hearing loss. ",
"keywords": null
},
{
"identifier": "Rauch-Steindl syndrome.",
"acronym": "RAUST.",
"accession": "DI-06312",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by poor pre- and postnatal growth, facial dysmorphism, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual. Other features may include hypotonia and behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "RAPADILINO syndrome.",
"acronym": "RAPADILINOS.",
"accession": "DI-02245",
"synonyms": null,
"cross_references": "MedGen; C1849453.",
"definition": "Disease characterized by radial and patellar aplasia or hypoplasia. ",
"keywords": null
},
{
"identifier": "Split-hand/foot malformation 4.",
"acronym": "SHFM4.",
"accession": "DI-02328",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. ",
"keywords": null
},
{
"identifier": "Rajab interstitial lung disease with brain calcifications 2.",
"acronym": "RILDBC2.",
"accession": "DI-05916",
"synonyms": null,
"cross_references": "MeSH; D017563.",
"definition": "An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts. ",
"keywords": null
},
{
"identifier": "Rahman syndrome.",
"acronym": "RMNS.",
"accession": "DI-05023",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by intellectual disability and overgrowth manifesting as increased birth length, height, weight, and/or head circumference. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Spondylo-megaepiphyseal-metaphyseal dysplasia.",
"acronym": "SMMD.",
"accession": "DI-02858",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Radioulnar synostosis, non-syndromic.",
"acronym": "RUS.",
"accession": "DI-05849",
"synonyms": null,
"cross_references": "MeSH; D013580.",
"definition": "An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm. There are two disease forms. Radioulnar synostosis type 1 is characterized by a proximal fusion between the radius and ulna, and the radial head is absent. Radioulnar synostosis type 2 is characterized by a fusion just distal to the proximal radial epiphysis, and congenital dislocation of the radial head. In radioulnar synostosis type 2 there is also a restriction of extension at the elbow. ",
"keywords": null
},
{
"identifier": "Radio-Tartaglia syndrome.",
"acronym": "RATARS.",
"accession": "DI-06099",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, mild motor difficulties, impaired intellectual development, speech delay, craniofacial dysmorphism, and variable behavioral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Rabin-Pappas syndrome.",
"acronym": "RAPAS.",
"accession": "DI-06563",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by severely impaired global development, intellectual disability, microcephaly, facial dysmorphism, and variable congenital anomalies affecting the skeletal, genitourinary, cardiac, and other organ systems. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Pyruvate dehydrogenase phosphatase deficiency.",
"acronym": "PDP deficiency.",
"accession": "DI-02240",
"synonyms": null,
"cross_references": "MedGen; C1837429.",
"definition": "Results in lactic acidosis leading to neurological dysfunction. ",
"keywords": null
},
{
"identifier": "Pyruvate carboxylase deficiency.",
"acronym": "PC deficiency.",
"accession": "DI-02237",
"synonyms": null,
"cross_references": "MedGen; C2931141.",
"definition": "Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. ",
"keywords": null
},
{
"identifier": "Spondylocostal dysostosis 2, autosomal recessive.",
"acronym": "SCDO2.",
"accession": "DI-01082",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylocostal dysostosis 3, autosomal recessive.",
"acronym": "SCDO3.",
"accession": "DI-01083",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Spondylocostal dysostosis 4, autosomal recessive.",
"acronym": "SCDO4.",
"accession": "DI-02536",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. ",
"keywords": "KW-0242:Dwarfism.; "
}
]
}