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=2560&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2520&ordering=-synonyms",
"results": [
{
"identifier": "Combined oxidative phosphorylation deficiency 54.",
"acronym": "COXPD54.",
"accession": "DI-06332",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Lower urinary tract obstruction, congenital.",
"acronym": "LUTO.",
"accession": "DI-05673",
"synonyms": null,
"cross_references": "MeSH; D014570.",
"definition": "A disorder characterized by urinary bladder outflow obstruction, which can represent an anatomical blockage or a functional obstruction. The most common anatomical causes are posterior urethral valves at the level of the prostatic urethra, a lesion unique to males. Less common are anterior urethral valves, also called urethral atresia, that can occur in either sex. LUTO is an autosomal dominant disease with variable expression. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 55.",
"acronym": "COXPD55.",
"accession": "DI-06333",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disease characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia may be present in some patients. COXPD55 transmission pattern is consistent with autosomal dominant inheritance in some families, and with autosomal recessive inheritance in others. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Glucocorticoid deficiency 5.",
"acronym": "GCCD5.",
"accession": "DI-05165",
"synonyms": null,
"cross_references": "MeSH; D000309.",
"definition": "A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 56.",
"acronym": "COXPD56.",
"accession": "DI-06553",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Hyperproinsulinemia.",
"acronym": "HPRI.",
"accession": "DI-01585",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 57.",
"acronym": "COXPD57.",
"accession": "DI-06577",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disease characterized by multisystemic features including encephalopathy, neurodevelopmental regression, ocular anomalies, decreased vision, auditory neuropathy, sensorineural hearing loss, and cardiac defects. Disease severity is variable, ranging from premature death in infancy to permanent disability in young adulthood. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Blepharocheilodontic syndrome 2.",
"acronym": "BCDS2.",
"accession": "DI-05104",
"synonyms": null,
"cross_references": "MeSH; D014071.",
"definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 58.",
"acronym": "COXPD58.",
"accession": "DI-06725",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive mitochondrial disease manifesting in the first 5 years of life and characterized by a wide range of clinical presentations. Clinical features include neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with non-specific brain abnormalities, or mitochondrial myopathy with a treatable neuromuscular transmission defect. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Immunodeficiency 64 with lymphoproliferation.",
"acronym": "IMD64.",
"accession": "DI-05632",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity. ",
"keywords": null
},
{
"identifier": "Combined oxidative phosphorylation deficiency 59.",
"acronym": "COXPD59.",
"accession": "DI-06810",
"synonyms": null,
"cross_references": "MeSH; D007888.",
"definition": "An autosomal recessive mitochondrial disease presenting with multisystem manifestations of variable severity. The disease spectrum ranges from lethal infantile Leigh syndrome to a milder disorder characterized by hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder, and survival into adulthood. ",
"keywords": "KW-0431:Leigh syndrome.; "
},
{
"identifier": "Leber congenital amaurosis 7.",
"acronym": "LCA7.",
"accession": "DI-00635",
"synonyms": null,
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
},
{
"identifier": "Alacrima, achalasia, and impaired intellectual development syndrome.",
"acronym": "AAMR.",
"accession": "DI-03937",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.",
"acronym": "IHPRF2.",
"accession": "DI-04645",
"synonyms": null,
"cross_references": "MeSH; D020271.",
"definition": "An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Combined oxidative phosphorylation deficiency 7.",
"acronym": "COXPD7.",
"accession": "DI-02900",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency.",
"acronym": "HA-GPID.",
"accession": "DI-01729",
"synonyms": null,
"cross_references": "MeSH; D000746.",
"definition": "A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Glutathione synthetase deficiency of erythrocytes.",
"acronym": "GLUSYNDE.",
"accession": "DI-01674",
"synonyms": null,
"cross_references": "MedGen; C1856399.",
"definition": "Mild form causing hemolytic anemia. ",
"keywords": null
},
{
"identifier": "Blepharophimosis-impaired intellectual development syndrome.",
"acronym": "BIS.",
"accession": "DI-06094",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Blistering, acantholytic, of oral and laryngeal mucosa.",
"acronym": "ABOLM.",
"accession": "DI-06040",
"synonyms": null,
"cross_references": "MeSH; D009059.",
"definition": "An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle. ",
"keywords": null
},
{
"identifier": "Pseudo-TORCH syndrome 3.",
"acronym": "PTORCH3.",
"accession": "DI-05844",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal recessive disorder characterized by developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Disease onset is in the neonatal period, and death in early childhood is common. ",
"keywords": null
}
]
}