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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4040&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4000&ordering=-synonyms",
"results": [
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 4B.",
"acronym": "MC5DN4B.",
"accession": "DI-03740",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type.; Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type.; Mitochondrial complex V (ATP synthase) deficiency type 4.; ",
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder characterized by severe neonatal encephalopathy resulting in death in the first weeks of life. Affected individuals do not show dysmorphic features or organomegaly, and manifest neurologic features such as irritability, a high-pitched cry, a horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. Post-mortem anatomopathological examination shows extensive cerebral damage, hypoplastic lungs, and renal and skeletal lesions. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 4A.",
"acronym": "MC5DN4A.",
"accession": "DI-06674",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A.; ",
"cross_references": "MeSH; D028361.",
"definition": "An autosomal dominant mitochondrial disorder characterized by failure to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and increased serum alanine levels. Some affected individuals show spontaneous resolution of the symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 5.",
"acronym": "MC5DN5.",
"accession": "DI-05335",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency, ATP5F1D type.; ",
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3- methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex V deficiency, nuclear type 3.",
"acronym": "MC5DN3.",
"accession": "DI-03148",
"synonyms": "Mitochondrial complex V (ATP synthase) deficiency ATP5E type.; Mitochondrial complex V (ATP synthase) deficiency type 3.; ",
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Leukodystrophy, hypomyelinating, 4.",
"acronym": "HLD4.",
"accession": "DI-00650",
"synonyms": "MitCHAP60 disease.; MitCHAP-60 disease.; Mitochondrial HSP60 chaperonopathy.; ",
"cross_references": "MeSH; D020279.",
"definition": "A severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound intellectual disability. Death usually occurs within the first two decades of life. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Sensory ataxic neuropathy dysarthria and ophthalmoparesis.",
"acronym": "SANDO.",
"accession": "DI-01014",
"synonyms": "MIRAS.; Mitochondrial recessive ataxia syndrome.; Mitochondrial spinocerebellar ataxia-epilepsy syndrome.; MSCAE.; SCAE.; Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive.; Spinocerebellar ataxia with epilepsy.; ",
"cross_references": "MeSH; D015417.",
"definition": "A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. ",
"keywords": "KW-0622:Neuropathy.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Congenital myopathy 1B, autosomal recessive.",
"acronym": "CMYP1B.",
"accession": "DI-02002",
"synonyms": "Minicore myopathy with external ophthalmoplegia.; MMDO.; Multicore myopathy with external ophthalmoplegia.; Multiminicore disease with external ophthalmoplegia.; ",
"cross_references": "MeSH; D020512.",
"definition": "An autosomal recessive myopathy characterized by severe hypotonia and generalized muscle weakness and atrophy apparent soon after birth or in early childhood. Affected individuals show delayed motor development, proximal muscle weakness with axial and shoulder girdle involvement, difficulty walking or running, external ophthalmoplegia, and bulbar weakness often resulting in feeding difficulties and respiratory insufficiency. Disease severity is variable. Some affected individuals show symptoms in utero, including reduced fetal movements, polyhydramnios, and intrauterine growth restriction. Some patients have lethal fetal akinesia with death in utero. Muscle biopsy can show variable findings, including multiple and poorly circumscribed areas of sarcomere disorganization and mitochondria depletion (areas termed minicores). Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. ",
"keywords": null
},
{
"identifier": "Postaxial acrofacial dysostosis.",
"acronym": "POADS.",
"accession": "DI-02571",
"synonyms": "Miller syndrome.; ",
"cross_references": "MedGen; C0265257.",
"definition": "POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. ",
"keywords": null
},
{
"identifier": "Maturity-onset diabetes of the young 1.",
"acronym": "MODY1.",
"accession": "DI-01943",
"synonyms": "Mild juvenile diabetes mellitus.; MODY-1.; MODY type 1.; ",
"cross_references": "MeSH; D003924.",
"definition": "A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Migraine with or without aura 13.",
"acronym": "MGR13.",
"accession": "DI-02934",
"synonyms": "Migraine with aura 13.; ",
"cross_references": "MeSH; D020326.",
"definition": "A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. ",
"keywords": null
},
{
"identifier": "Diarrhea 12, with microvillus atrophy.",
"acronym": "DIAR12.",
"accession": "DI-06171",
"synonyms": "Microvillus inclusion disease 2.; MVID2.; ",
"cross_references": "MeSH; D008286.",
"definition": "An autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. DIAR12 can be diagnosed based on variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 1.",
"acronym": "WARBM1.",
"accession": "DI-02418",
"synonyms": "Micro syndrome.; WARBM.; Warburg micro syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "A rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 3.",
"acronym": "WARBM3.",
"accession": "DI-03229",
"synonyms": "Micro syndrome 3.; ",
"cross_references": "MeSH; D000015.",
"definition": "A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Warburg micro syndrome 2.",
"acronym": "WARBM2.",
"accession": "DI-03228",
"synonyms": "Micro syndrome 2.; ",
"cross_references": "MeSH; D000015.",
"definition": "A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe intellectual disability, spastic diplegia, and hypogonadism. ",
"keywords": null
},
{
"identifier": "Microphthalmia, syndromic, 12.",
"acronym": "MCOPS12.",
"accession": "DI-03951",
"synonyms": "Microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects.; ",
"cross_references": "MeSH; D008850.",
"definition": "A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, syndromic, 11.",
"acronym": "MCOPS11.",
"accession": "DI-03496",
"synonyms": "Microphthalmia with corpus callosum agenesis and orofacial clefting.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia, isolated, 5.",
"acronym": "MCOP5.",
"accession": "DI-00754",
"synonyms": "Microphthalmia MFRP-related.; Posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is 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. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Microphthalmia/Coloboma 9.",
"acronym": "MCOPCB9.",
"accession": "DI-03704",
"synonyms": "Microphthalmia, isolated, with coloboma, 9.; ",
"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 8.",
"acronym": "MCOPCB8.",
"accession": "DI-03952",
"synonyms": "Microphthalmia, isolated, with coloboma, 8.; ",
"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 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.; "
}
]
}