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=4300",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4260",
"results": [
{
"identifier": "Monocarboxylate transporter 1 deficiency.",
"acronym": "MCT1D.",
"accession": "DI-04263",
"synonyms": null,
"cross_references": "MeSH; D007662.",
"definition": "A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death. ",
"keywords": null
},
{
"identifier": "Monocarboxylate transporter 8 deficiency.",
"acronym": "MCT8 deficiency.",
"accession": "DI-01993",
"synonyms": "AHDS.; Allan-Herndon-Dudley syndrome.; ",
"cross_references": "MedGen; C0795889.",
"definition": "Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. ",
"keywords": null
},
{
"identifier": "Mononeuropathy of the median nerve mild.",
"acronym": "MNMN.",
"accession": "DI-02929",
"synonyms": "Carpal tunnel syndrome.; ",
"cross_references": "MeSH; D002349.",
"definition": "A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies. ",
"keywords": null
},
{
"identifier": "Monosomy 7 myelodysplasia and leukemia syndrome 1.",
"acronym": "M7MLS1.",
"accession": "DI-05981",
"synonyms": "Chromosome 7q deletion.; Familial mosaic monosomy 7 syndrome.; MLSM7.; Monosomy of bone marrow.; ",
"cross_references": "MeSH; D010198.",
"definition": "A hematologic disorder characterized by bone marrow dyspoiesis and pancytopenia manifesting in early childhood, associated with monosomy 7 in the bone marrow. Disease severity ranges from transient thrombocytopenia or anemia, or normal peripheral blood counts with transient bone marrow abnormalities or transient monosomy 7, to frank myelodysplastic syndrome or acute myelogenous leukemia. M7MLS1 inheritance is autosomal dominant with incomplete penetrance and variable expressivity. ",
"keywords": null
},
{
"identifier": "Monosomy 7 myelodysplasia and leukemia syndrome 2.",
"acronym": "M7MLS2.",
"accession": "DI-05982",
"synonyms": null,
"cross_references": "MeSH; D010198.",
"definition": "A hematologic disorder manifesting in early childhood and characterized by bone marrow dyspoiesis, pancytopenia, myelodysplastic syndrome or acute myelogenous leukemia, associated with monosomy 7 in the bone marrow. Disease severity is highly variable. Inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Morbid obesity and spermatogenic failure.",
"acronym": "MOSPGF.",
"accession": "DI-04042",
"synonyms": "MO1 syndrome.; ",
"cross_references": "MeSH; D009767.",
"definition": "An autosomal recessive morbid obesity syndrome characterized by hypertension, fatty liver disease, insulin resistance, and decreased sperm counts. Variable clinical manifestations are early coronary artery disease with myocardial infarction before 45 years of age, type II diabetes mellitus, and intellectual disability. Morbid obese individuals are defined as having a BMI greater than 40. ",
"keywords": "KW-0550:Obesity.; "
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 1.",
"acronym": "MVA1.",
"accession": "DI-01994",
"synonyms": "MVA syndrome.; ",
"cross_references": "MeSH; D025063.",
"definition": "A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. ",
"keywords": null
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 2.",
"acronym": "MVA2.",
"accession": "DI-03206",
"synonyms": null,
"cross_references": "MeSH; D025063.",
"definition": "A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. ",
"keywords": null
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 3.",
"acronym": "MVA3.",
"accession": "DI-05048",
"synonyms": null,
"cross_references": "MeSH; D025063.",
"definition": "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 4.",
"acronym": "MVA4.",
"accession": "DI-06560",
"synonyms": null,
"cross_references": "MeSH; D025063.",
"definition": "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition.",
"acronym": "MVA7.",
"accession": "DI-06585",
"synonyms": null,
"cross_references": "MeSH; D025063.",
"definition": "A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA7 is an autosomal recessive form characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. ",
"keywords": null
},
{
"identifier": "Mowat-Wilson syndrome.",
"acronym": "MOWS.",
"accession": "DI-01749",
"synonyms": null,
"cross_references": "MeSH; D008831.",
"definition": "A complex developmental disorder characterized by intellectual disability, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease. ",
"keywords": "KW-0367:Hirschsprung disease.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Moyamoya disease 2.",
"acronym": "MYMY2.",
"accession": "DI-03059",
"synonyms": null,
"cross_references": "MeSH; D009072.",
"definition": "A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. ",
"keywords": null
},
{
"identifier": "Moyamoya disease 5.",
"acronym": "MYMY5.",
"accession": "DI-03141",
"synonyms": null,
"cross_references": "MeSH; D009072.",
"definition": "A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. ",
"keywords": null
},
{
"identifier": "Moyamoya disease 6 with or without achalasia.",
"acronym": "MYMY6.",
"accession": "DI-04074",
"synonyms": "Moyamoya 6 with achalasia.; ",
"cross_references": "MeSH; D009072.",
"definition": "A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Moyamoya disease 7.",
"acronym": "MYMY7.",
"accession": "DI-06829",
"synonyms": null,
"cross_references": "MeSH; D009072.",
"definition": "A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY7 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Muckle-Wells syndrome.",
"acronym": "MWS.",
"accession": "DI-00783",
"synonyms": "UDA syndrome.; Urticaria-deafness-amyloidosis syndrome.; ",
"cross_references": "MeSH; D056587.",
"definition": "A hereditary periodic fever syndrome characterized by fever, chronic recurrent urticaria, arthralgias, progressive sensorineural deafness, and reactive renal amyloidosis. The disease may be severe if generalized reactive amyloidosis occurs. ",
"keywords": "KW-0209:Deafness.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Mucoepithelial dysplasia, hereditary.",
"acronym": "HMD.",
"accession": "DI-05948",
"synonyms": null,
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant genodermatosis mainly characterized by chronic mucosal lesions associated with keratitis, non-scarring alopecia, keratosis pilaris and perineal intertrigo. ",
"keywords": null
},
{
"identifier": "Mucolipidosis 4.",
"acronym": "ML4.",
"accession": "DI-01998",
"synonyms": "MLIV.; Mucolipidosis IV.; Mucolipidosis type IV.; Sialolipidosis.; ",
"cross_references": "MeSH; D009081.",
"definition": "An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. ",
"keywords": "KW-0942:Mucolipidosis.; "
},
{
"identifier": "Mucolipidosis type II.",
"acronym": "MLII.",
"accession": "DI-01995",
"synonyms": "ICD.; I-cell disease.; Inclusion cell disease.; ",
"cross_references": "MedGen; C2673377.",
"definition": "Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. ",
"keywords": "KW-0942:Mucolipidosis.; "
}
]
}