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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4360&ordering=synonyms",
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{
"identifier": "Intellectual developmental disorder with speech delay and axonal peripheral neuropathy.",
"acronym": "IDDSAPN.",
"accession": "DI-05972",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by mild global developmental delay, mild to moderate intellectual disability, motor impairment, unsteady or ataxic gait, and severe speech delay apparent in the first years of life. Signs of a peripheral axonal neuropathy, including progressive distal muscle weakness and atrophy of the lower limbs, foot and hand deformities, and dysarthria, are observed in most patients. Some patients may have autistic features or attention deficit-hyperactivity disorder. ",
"keywords": "KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, without vestibular involvement.",
"acronym": "DFNAWVI.",
"accession": "DI-02065",
"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": "Intellectual developmental disorder with short stature, facial anomalies, and speech defects.",
"acronym": "IDDSFAS.",
"accession": "DI-05547",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with short stature and variable skeletal anomalies.",
"acronym": "IDDSSA.",
"accession": "DI-05577",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by severe intellectual disability, speech and language impairment, developmental delay, and cardiac, thyroid and skeletal abnormalities. Skeletal features include short stature, camptodactyly, fifth finger clinodactyly, thumb hypoplasia, overlapping toes, and kyphosis or lumbar vertebral abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 44.",
"acronym": "DFNA44.",
"accession": "DI-01220",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 18.",
"acronym": "CMH18.",
"accession": "DI-03039",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 17.",
"acronym": "CMH17.",
"accession": "DI-03038",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Ataxia, intention tremor, and hypotonia syndrome, childhood-onset.",
"acronym": "ATITHS.",
"accession": "DI-06132",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.",
"acronym": "ACPHD.",
"accession": "DI-04316",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0523:Neurodegeneration.; KW-0622:Neuropathy.; "
},
{
"identifier": "Intellectual developmental disorder with short stature and behavioral abnormalities.",
"acronym": "IDDSSBA.",
"accession": "DI-05712",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder with onset in infancy and characterized by intellectual disability, developmental delay, short stature, aphasia, and hypotonia. Additional features include seizures and behavioral abnormalities, such as inattention, hyperactivity and aggression. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with severe speech and ambulation defects.",
"acronym": "IDDSSAD.",
"accession": "DI-05593",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 41.",
"acronym": "DFNA41.",
"accession": "DI-03966",
"synonyms": null,
"cross_references": "MeSH; D003638.",
"definition": "A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Intellectual developmental disorder with seizures and language delay.",
"acronym": "IDDSELD.",
"accession": "DI-05906",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with poor growth and with or without seizures or ataxia.",
"acronym": "IDPOGSA.",
"accession": "DI-05788",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, hypotonia, and poor overall growth with microcephaly. Additional variable features include dysmorphic features, cataracts, ataxia and seizures. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Deafness, autosomal dominant, 40.",
"acronym": "DFNA40.",
"accession": "DI-04417",
"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": "Cardiomyopathy, familial hypertrophic, 16.",
"acronym": "CMH16.",
"accession": "DI-03037",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Intellectual developmental disorder with paroxysmal dyskinesia or seizures.",
"acronym": "IDDPADS.",
"accession": "DI-06007",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early- onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with or without peripheral neuropathy.",
"acronym": "IDDPN.",
"accession": "DI-06400",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay appearing in infancy or early childhood, intellectual disability, and progressive sensorimotor neuropathy with associated distal weakness. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Additional features may include dysarthria and subtle facial dysmorpism. ",
"keywords": "KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia.",
"acronym": "IDDECA.",
"accession": "DI-05291",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder that manifests with variable features of mild-to-severe intellectual disability, developmental delay, autism spectrum disorder, cerebellar ataxia and epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 15.",
"acronym": "CMH15.",
"accession": "DI-02679",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}