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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4060&ordering=identifier",
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"results": [
{
"identifier": "Microcephaly 12, primary, autosomal recessive.",
"acronym": "MCPH12.",
"accession": "DI-04262",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 13, primary, autosomal recessive.",
"acronym": "MCPH13.",
"accession": "DI-04269",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 14, primary, autosomal recessive.",
"acronym": "MCPH14.",
"accession": "DI-04446",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 16, primary, autosomal recessive.",
"acronym": "MCPH16.",
"accession": "DI-04594",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 17, primary, autosomal recessive.",
"acronym": "MCPH17.",
"accession": "DI-04821",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH17 is a severe form characterized by lissencephaly, enlarged ventricles, agenesis of the corpus callosum, cerebellar hypoplasia, and brainstem hypoplasia. Patients manifest delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 18, primary, autosomal dominant.",
"acronym": "MCPH18.",
"accession": "DI-05016",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH18 affected individuals manifest microcephaly with mild to moderate intellectual disability. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 19, primary, autosomal recessive.",
"acronym": "MCPH19.",
"accession": "DI-05157",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 1, primary, autosomal recessive.",
"acronym": "MCPH1.",
"accession": "DI-00751",
"synonyms": "Microcephaly vera.; PCC syndrome.; Premature chromosome condensation syndrome.; True microcephaly.; ",
"cross_references": "MeSH; D008831.",
"definition": "A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have mild to severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 20, primary, autosomal recessive.",
"acronym": "MCPH20.",
"accession": "DI-05207",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH20 features include mild to moderate intellectual disability, autistic features, poor speech. Disease severity is highly variable. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 21, primary, autosomal recessive.",
"acronym": "MCPH21.",
"accession": "DI-05234",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 22, primary, autosomal recessive.",
"acronym": "MCPH22.",
"accession": "DI-05235",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 23, primary, autosomal recessive.",
"acronym": "MCPH23.",
"accession": "DI-05236",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 24, primary, autosomal recessive.",
"acronym": "MCPH24.",
"accession": "DI-05381",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH24 patients additionally manifest mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 25, primary, autosomal recessive.",
"acronym": "MCPH25.",
"accession": "DI-05495",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH25 patients additionally manifest global developmental delay, severe intellectual disability with speech impairment, attention deficit-hyperactivity disorder, and reduced white matter and thin corpus callosum on brain imaging. ",
"keywords": "KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly 26, primary, autosomal dominant.",
"acronym": "MCPH26.",
"accession": "DI-06044",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH26 is an autosomal dominant, progressive form apparent at birth or in early infancy. It is associated with relative short stature, variable severity of intellectual disability, and neurological features as the core symptoms. Brain imaging shows a simplified gyral pattern of the cortex and abnormal corpus callosum in some patients. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 27, primary, autosomal dominant.",
"acronym": "MCPH27.",
"accession": "DI-06045",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH27 is an autosomal dominant form apparent in early childhood and associated with global developmental delay, delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Brain imaging may show enlarged ventricles or gyral abnormalities in some patients. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 28, primary, autosomal recessive.",
"acronym": "MCPH28.",
"accession": "DI-06154",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH28 is an autosomal recessive form characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 29, primary, autosomal recessive.",
"acronym": "MCPH29.",
"accession": "DI-06509",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH29 is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations.",
"acronym": "MCPH2.",
"accession": "DI-03164",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A disease characterized by microcephaly, moderate to severe intellectual disability, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly 30, primary, autosomal recessive.",
"acronym": "MCPH30.",
"accession": "DI-06562",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH30 is characterized by small head, poor overall growth, and global developmental delay with variably impaired intellectual development. Affected individuals may also have variable congenital anomalies, including atrial septal defect, dysmorphic facial features, tracheal stenosis, and anomalies of the skin and teeth. ",
"keywords": "KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
}
]
}