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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3640&ordering=synonyms",
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"results": [
{
"identifier": "Adrenal insufficiency, NR5A1-related.",
"acronym": "AINR.",
"accession": "DI-05003",
"synonyms": null,
"cross_references": "MeSH; D000309.",
"definition": "A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. ",
"keywords": null
},
{
"identifier": "Achondroplasia.",
"acronym": "ACH.",
"accession": "DI-00021",
"synonyms": null,
"cross_references": "MeSH; D000130.",
"definition": "A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Developmental delay, dysmorphic facies, and brain anomalies.",
"acronym": "DEVDFB.",
"accession": "DI-06773",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay with intellectual disability and speech delay, epilepsy, hypotonia, short stature, microcephaly, intermittent exotropia, and non-specific facial dysmorphism. Brain imaging shows a thin corpus callosum and/or delayed myelination. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, behavioral abnormalities, and neuropsychiatric disorders.",
"acronym": "DEDBANP.",
"accession": "DI-06517",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by mild global developmental delay, normal or variably impaired intellectual development, and behavioral or neuropsychiatric disorders, including autism spectrum disorder, attention deficit-hyperactivity disorder, and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay with variable neurologic and brain abnormalities.",
"acronym": "DENBA.",
"accession": "DI-06311",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by onset of motor and speech delay in early childhood. Disease severity and clinical manifestations are highly variable. Most patients have delayed walking and variably impaired intellectual development. Additional features may include seizures, spasticity, and ocular abnormalities. Brain imaging often shows thin corpus callosum and may show white matter atrophy, myelination abnormalities, or enlarged ventricles. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with variable intellectual impairment and behavioral abnormalities.",
"acronym": "DDVIBA.",
"accession": "DI-05566",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by impaired intellectual development with speech difficulties, dysmorphic features, and behavioral abnormalities including autism spectrum disorder, attention deficit and hyperactivity. Additional variable features may include hypotonia, somatic overgrowth, macrocephaly, mild distal skeletal anomalies, sleep disturbances, movement disorders, and gastrointestinal issues, such as constipation. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with variable intellectual disability and dysmorphic facies.",
"acronym": "DIDDF.",
"accession": "DI-06542",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by various degrees of developmental delay, mild to moderate intellectual disability, learning difficulties, hypotonia, autistic features, behavior abnormalities, and dysmorphic facial features apparent from infancy or early childhood. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with or without intellectual impairment or behavioral abnormalities.",
"acronym": "DDIB.",
"accession": "DI-06244",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by a highly variable phenotype of developmental delay, intellectual disability, learning or behavioral problems, muscular hypotonia, and neonatal feeding difficulties. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebroretinal microangiopathy with calcifications and cysts 3.",
"acronym": "CRMCC3.",
"accession": "DI-06680",
"synonyms": null,
"cross_references": "MeSH; D059345.",
"definition": "An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, global developmental delay, neurologic regression, intracranial calcifications, and leukoencephalopathy. ",
"keywords": null
},
{
"identifier": "Autism, X-linked 5.",
"acronym": "AUTSX5.",
"accession": "DI-03140",
"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 delay with or without epilepsy.",
"acronym": "DEVEP.",
"accession": "DI-06777",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood, and characterized by impaired intellectual development, speech delay, motor delay, and behavioral abnormalities. About half of patients develop various types of seizures. Some affected individuals have cerebellar atrophy and ataxia. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with or without dysmorphic facies and autism.",
"acronym": "DEDDFA.",
"accession": "DI-05586",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood. Some patients present with intellectual disability and renal, cardiac, genitourinary systems, as well as structural brain abnormalities. In some cases, the phenotype is less severe, has no systemic involvement and is characterized by autism spectrum disorder and/or intellectual disability, sometimes associated with epilepsy. Affected individuals manifest variable dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay with hypotonia, myopathy, and brain abnormalities.",
"acronym": "DEDHMB.",
"accession": "DI-06607",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and muscle weakness apparent in infancy, microcephaly, seizures, central hypotonia, and skeletal muscle myopathy. Brain imaging shows cerebral atrophy, thinning of the corpus callosum, and delayed myelination. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay with dysmorphic facies and dental anomalies.",
"acronym": "DEFDA.",
"accession": "DI-06057",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by mild global developmental delay, impaired intellectual development, walking by 2 to 3 years, and slow language acquisition.The severity of the disorder ranges from moderate cognitive deficits to mild learning difficulties or behavioral abnormalities. Most patients have dysmorphic facial features, abnormal dentition and non-specific visual defects. DEFDA transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebroretinal microangiopathy with calcifications and cysts 2.",
"acronym": "CRMCC2.",
"accession": "DI-04949",
"synonyms": null,
"cross_references": "MeSH; D059345.",
"definition": "An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients. ",
"keywords": null
},
{
"identifier": "Developmental delay and seizures with or without movement abnormalities.",
"acronym": "DEDSM.",
"accession": "DI-05179",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 99.",
"acronym": "DEE99.",
"accession": "DI-06265",
"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. DEE99 is an autosomal dominant form characterized by onset of seizures in early childhood. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 98.",
"acronym": "DEE98.",
"accession": "DI-06264",
"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. DEE98 is an autosomal dominant form characterized by onset of seizures in the first decade. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental and epileptic encephalopathy 97.",
"acronym": "DEE97.",
"accession": "DI-06248",
"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. DEE97 is an autosomal dominant form. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Cerebro-oculo-facio-skeletal syndrome 3.",
"acronym": "COFS3.",
"accession": "DI-04514",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. ",
"keywords": null
}
]
}