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=3660&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3620&ordering=synonyms",
"results": [
{
"identifier": "Autism, X-linked 3.",
"acronym": "AUTSX3.",
"accession": "DI-02433",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 96.",
"acronym": "DEE96.",
"accession": "DI-06117",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE96 is an autosomal dominant form characterized by onset of seizures in the first days or weeks of life. Affected infants also have hypotonia with respiratory insufficiency that may result in premature death. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 90.",
"acronym": "DEE90.",
"accession": "DI-06025",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE90 is an X-linked form characterized by onset of refractory seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 89.",
"acronym": "DEE89.",
"accession": "DI-05990",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE89 is an autosomal recessive severe form characterized by profound global developmental delay with impaired intellectual development, absent speech, inability to sit or walk due to axial hypotonia and spastic quadriparesis, and onset of seizures in the first days or months of life. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 3.",
"acronym": "CPSQ3.",
"accession": "DI-04750",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment. ",
"keywords": null
},
{
"identifier": "Cerebral palsy, spastic quadriplegic 2.",
"acronym": "CPSQ2.",
"accession": "DI-02559",
"synonyms": null,
"cross_references": "MeSH; D002547.",
"definition": "A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of intellectual disability. Neuroimaging shows brain atrophy and ventriculomegaly. ",
"keywords": null
},
{
"identifier": "Autism 20.",
"acronym": "AUTS20.",
"accession": "DI-05821",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. The transmission pattern of AUTS20 is consistent with autosomal dominant inheritance. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 19.",
"acronym": "AUTS19.",
"accession": "DI-03649",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 17.",
"acronym": "AUTS17.",
"accession": "DI-02794",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Diarrhea 10, protein-losing enteropathy type.",
"acronym": "DIAR10.",
"accession": "DI-05384",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. ",
"keywords": null
},
{
"identifier": "Cerebral cavernous malformations 4.",
"acronym": "CCM4.",
"accession": "DI-06256",
"synonyms": null,
"cross_references": "MeSH; D020786.",
"definition": "A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1W.",
"acronym": "CMD1W.",
"accession": "DI-00225",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Dystonia 23.",
"acronym": "DYT23.",
"accession": "DI-04376",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Autism 15.",
"acronym": "AUTS15.",
"accession": "DI-02792",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Auriculocondylar syndrome 4.",
"acronym": "ARCND4.",
"accession": "DI-06729",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Auriculocondylar syndrome 3.",
"acronym": "ARCND3.",
"accession": "DI-04052",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Auriculocondylar syndrome 2B.",
"acronym": "ARCND2B.",
"accession": "DI-06730",
"synonyms": null,
"cross_references": "MeSH; D018640.",
"definition": "An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. ",
"keywords": null
},
{
"identifier": "Cerebellar, ocular, craniofacial, and genital syndrome.",
"acronym": "COFG.",
"accession": "DI-05597",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Dystonia 22, juvenile-onset.",
"acronym": "DYT22JO.",
"accession": "DI-06726",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay.",
"acronym": "CHEGDD.",
"accession": "DI-05744",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
}
]
}