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=4100&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4060&ordering=identifier",
"results": [
{
"identifier": "Microcephaly-micromelia syndrome.",
"acronym": "MIMIS.",
"accession": "DI-05053",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period. ",
"keywords": null
},
{
"identifier": "Microcephaly, postnatal progressive, with seizures and brain atrophy.",
"acronym": "MCPHSBA.",
"accession": "DI-02983",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth. ",
"keywords": null
},
{
"identifier": "Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.",
"acronym": "MSCCA.",
"accession": "DI-04103",
"synonyms": null,
"cross_references": "MeSH; D012640.",
"definition": "A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. ",
"keywords": "KW-0887:Epilepsy.; KW-0905:Primary microcephaly.; "
},
{
"identifier": "Microcephaly, seizures, and developmental delay.",
"acronym": "MCSZ.",
"accession": "DI-02855",
"synonyms": "DEE10.; Developmental and epileptic encephalopathy 10.; Early infantile epileptic encephalopathy 10.; EIEE10.; ",
"cross_references": "MeSH; D013036.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly. ",
"keywords": "KW-0887:Epilepsy.; KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly, short stature, and impaired glucose metabolism 1.",
"acronym": "MSSGM1.",
"accession": "DI-04234",
"synonyms": "Microcephaly, short stature, and impaired glucose metabolism.; MSSGM.; ",
"cross_references": "MeSH; D044882.",
"definition": "An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly, short stature, and impaired glucose metabolism 2.",
"acronym": "MSSGM2.",
"accession": "DI-04652",
"synonyms": null,
"cross_references": "MeSH; D044882.",
"definition": "An autosomal recessive disease characterized by microcephaly, intellectual disability, short stature, and disturbed glucose metabolism. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Microcephaly, short stature, and limb abnormalities.",
"acronym": "MISSLA.",
"accession": "DI-05065",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Microcephaly, short stature, and polymicrogyria with or without seizures.",
"acronym": "MSSP.",
"accession": "DI-03556",
"synonyms": "PMGYS.; Polymicrogyria with seizures.; ",
"cross_references": "MeSH; D054220.",
"definition": "A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. MSSP patients have moderate to severe intellectual disability, poor speech, dysarthria and seizures. ",
"keywords": null
},
{
"identifier": "Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development.",
"acronym": "MCLMR.",
"accession": "DI-03432",
"synonyms": "CDMMR syndrome.; Lymphedema and retinal folds with microcephaly and microphthalmos.; Lymphedema microcephaly chorioretinopathy syndrome.; Microcephaly lymphedema chorioretinal dysplasia syndrome.; MLCRD syndrome.; ",
"cross_references": "MeSH; D008831.",
"definition": "An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes. ",
"keywords": null
},
{
"identifier": "Microcornea, myopic chorioretinal atrophy, and telecanthus.",
"acronym": "MMCAT.",
"accession": "DI-03907",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears. ",
"keywords": null
},
{
"identifier": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1.",
"acronym": "MRCS1.",
"accession": "DI-05960",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An autosomal dominant ocular disorder characterized by poor visual acuity in early childhood, due to congenital cataract and microcornea followed by rod-cone dystrophy, with later development of posterior staphyloma. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Microhydranencephaly.",
"acronym": "MHAC.",
"accession": "DI-04102",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A severe neurodevelopmental disorder characterized by microcephaly, severe motor and intellectual disability, spasticity, and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. ",
"keywords": null
},
{
"identifier": "Micropenis.",
"acronym": "MCRPENS.",
"accession": "DI-04741",
"synonyms": "Microphallus.; ",
"cross_references": "MeSH; D058490.",
"definition": "A disease trait defined as a stretched penile length of less than 2.5 standard deviations below the mean for age. Traditionally, the term micropenis refers to a penis that is otherwise normally formed. The term microphallus is used when associated hypospadias is present. The mean stretched penile length in a full-term newborn male is 3.5 cm. Measurements of less than 2-2.5 cm in a full-term newborn male meet the definition of micropenis. ",
"keywords": null
},
{
"identifier": "Microphthalmia/Coloboma 10.",
"acronym": "MCOPCB10.",
"accession": "DI-04459",
"synonyms": "Microphthalmia, isolated, with coloboma, 10.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 11.",
"acronym": "MCOPCB11.",
"accession": "DI-06852",
"synonyms": null,
"cross_references": "MeSH; D008850.",
"definition": "A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB11 is an autosomal dominant form with incomplete penetrance. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/coloboma 12.",
"acronym": "MCOPCB12.",
"accession": "DI-02083",
"synonyms": "COAD.; COI.; Coloboma, ocular, autosomal dominant.; Coloboma of iris, choroid, and retina.; Ocular coloboma.; Uveoretinal coloboma.; ",
"cross_references": "MeSH; D003103.",
"definition": "A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB12 is an autosomal dominant form characterized by inter- and intrafamilial variability. Some patients also exhibit neurodevelopmental anomalies. ",
"keywords": null
},
{
"identifier": "Microphthalmia/Coloboma 3.",
"acronym": "MCOPCB3.",
"accession": "DI-00759",
"synonyms": "Colobomatous microphthalmia 3.; Microphthalmia, isolated, with coloboma, 3.; Microphthalmia with coloboma 3.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 5.",
"acronym": "MCOPCB5.",
"accession": "DI-00760",
"synonyms": "Colobomatous microphthalmia 5.; Microphthalmia, isolated, with coloboma, 5.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 6.",
"acronym": "MCOPCB6.",
"accession": "DI-02975",
"synonyms": "Colobomatous microphthalmia 6.; Microphthalmia, isolated, with coloboma, 6.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 7.",
"acronym": "MCOPCB7.",
"accession": "DI-03384",
"synonyms": "Colobomatous microphthalmia 7.; Microphthalmia, isolated, with coloboma, 7.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). ",
"keywords": "KW-1013:Microphthalmia.; "
}
]
}