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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3200&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency, developmental delay, and hypohomocysteinemia.",
"acronym": "IMDDHH.",
"accession": "DI-05121",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.",
"acronym": "XMEN.",
"accession": "DI-03201",
"synonyms": null,
"cross_references": "MeSH; D008231.",
"definition": "A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2D.",
"acronym": "CMD2D.",
"accession": "DI-06135",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Lipoyltransferase 1 deficiency.",
"acronym": "LIPT1D.",
"accession": "DI-04388",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder due to a defect in lipoic acid metabolism, resulting in severe lactic acidosis and metabolic decompensation. Variable clinical manifestations include delayed psychomotor development, severe hypotonia, dystonia, loss of head control, coma, bradycardia, and pulmonary hypertension. ",
"keywords": null
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2.",
"acronym": "ICF2.",
"accession": "DI-03138",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3.",
"acronym": "ICF3.",
"accession": "DI-04704",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4.",
"acronym": "ICF4.",
"accession": "DI-04705",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Immunoglobulin A deficiency 2.",
"acronym": "IGAD2.",
"accession": "DI-01814",
"synonyms": null,
"cross_references": "MedGen; C1836032.",
"definition": "Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology. ",
"keywords": null
},
{
"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": "Immunoskeletal dysplasia with neurodevelopmental abnormalities.",
"acronym": "ISDNA.",
"accession": "DI-04990",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "D-2-hydroxyglutaric aciduria 2.",
"acronym": "D2HGA2.",
"accession": "DI-02980",
"synonyms": null,
"cross_references": "MeSH; D020739.",
"definition": "A neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. ",
"keywords": null
},
{
"identifier": "Impaired intellectual development, anterior maxillary protrusion, and strabismus.",
"acronym": "MRAMS.",
"accession": "DI-02951",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A syndrome characterized by severe intellectual disability, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "D-bifunctional protein deficiency.",
"acronym": "DBPD.",
"accession": "DI-01471",
"synonyms": null,
"cross_references": "MedGen; C0342870.",
"definition": "Disorder of peroxisomal fatty acid beta-oxidation. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with hypotonia and behavioral abnormalities.",
"acronym": "IDDHBA.",
"accession": "DI-05741",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder with onset in infancy. IDDHBA is characterized by hypotonia, global developmental delay, learning disability, and behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder. Additional variable features may include non-specific facial dysmorphism, congenital heart defects, ocular anomalies, and poor feeding. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2G.",
"acronym": "CMD2G.",
"accession": "DI-06435",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Nasopharyngeal carcinoma, 3.",
"acronym": "NPCA3.",
"accession": "DI-04806",
"synonyms": null,
"cross_references": "MeSH; D009303.",
"definition": "A form of nasopharyngeal carcinoma, a malignant neoplasm that originates in the nasopharyngeal epithelium and includes 4 subtypes: keratinizing squamous cell, non-keratinizing, basaloid squamous cell, and papillary adenocarcinoma. ",
"keywords": null
},
{
"identifier": "D-lactic aciduria with gout.",
"acronym": "DLACD.",
"accession": "DI-05545",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. ",
"keywords": null
},
{
"identifier": "Joubert syndrome 35.",
"acronym": "JBTS35.",
"accession": "DI-05361",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"identifier": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.",
"acronym": "CASGID.",
"accession": "DI-05490",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Yuksel-Vogel-Bauer syndrome.",
"acronym": "YUVOB.",
"accession": "DI-06841",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by multisystemic manifestations including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. ",
"keywords": null
}
]
}