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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1940&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1900&ordering=-synonyms",
"results": [
{
"identifier": "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy.",
"acronym": "DIGFAN.",
"accession": "DI-06005",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by developmental delay, intellectual disability, hypotonia, poor growth, short stature, microcephaly, and variable craniofacial dysmorphism. Patients often present weakness, hyporeflexia, and electrophysiologic abnormalities consistent with an axonal sensorimotor peripheral neuropathy. Additional features may include hearing loss, pigmentary retinopathy, and abnormalities on brain imaging, including cerebral or cerebellar atrophy, hypomyelination, and lesions in the basal ganglia or brainstem. Disease severity is highly variable. ",
"keywords": "KW-0242:Dwarfism.; KW-0622:Neuropathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired speech, and behavioral abnormalities.",
"acronym": "DDISBA.",
"accession": "DI-06193",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures.",
"acronym": "DEDISB.",
"accession": "DI-06472",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development, language delay, motor deficits, and behavioral abnormalities including aggression, hyperactivity, and autism spectrum disorder. About half of individuals develop various types of seizures. More variable features include dysmorphic facial features, mild ocular anomalies, and non-specific findings on brain imaging. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Developmental delay, language impairment, and ocular abnormalities.",
"acronym": "DEVLO.",
"accession": "DI-06554",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by mild motor delay, mildly impaired intellectual development, and significant speech impairment. Most affected individuals have microcephaly and may have mild dysmorphic features. Variable ocular anomalies include strabismus, cataracts, and cortical visual impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 69.",
"acronym": "MRT69.",
"accession": "DI-05523",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Developmental dysplasia of the hip 3.",
"acronym": "DDH3.",
"accession": "DI-06830",
"synonyms": null,
"cross_references": "MeSH; D000082602.",
"definition": "An autosomal dominant form of congenital dysplasia of the hip, a common skeletal anomaly in which the normal seating of the femoral head in the acetabulum is disrupted. Its severity ranges from mild instability of the femoral head with slight capsular laxity, permitting minimal lateral displacement, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. ",
"keywords": null
},
{
"identifier": "Hutchinson-Gilford progeria syndrome.",
"acronym": "HGPS.",
"accession": "DI-01757",
"synonyms": null,
"cross_references": "MedGen; CN070028.",
"definition": "Rare genetic disorder characterized by features reminiscent of marked premature aging. ",
"keywords": null
},
{
"identifier": "Dystonia 35, childhood-onset.",
"acronym": "DYT35.",
"accession": "DI-06446",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dyskeratosis congenita, digenic.",
"acronym": "DKCD.",
"accession": "DI-06506",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Diabetes mellitus, ketosis-prone.",
"acronym": "KPD.",
"accession": "DI-02784",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Corticosteroid-binding globulin deficiency.",
"acronym": "CBG deficiency.",
"accession": "DI-01433",
"synonyms": null,
"cross_references": "MedGen; C1969107.",
"definition": "Extremely rare hereditary disorder characterized by reduced corticosteroid-binding capacity with normal or low plasma corticosteroid-binding globulin concentration, and normal or low basal cortisol levels associated with hypo/hypertension and muscle fatigue. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 4.",
"acronym": "HRPT4.",
"accession": "DI-04951",
"synonyms": null,
"cross_references": "MeSH; D049950.",
"definition": "A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 1.",
"acronym": "ADMIO1.",
"accession": "DI-04194",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "
},
{
"identifier": "Focal segmental glomerulosclerosis 5.",
"acronym": "FSGS5.",
"accession": "DI-02556",
"synonyms": null,
"cross_references": "MeSH; D005923.",
"definition": "A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. ",
"keywords": null
},
{
"identifier": "Diabetes mellitus, permanent neonatal, 4.",
"acronym": "PNDM4.",
"accession": "DI-05825",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. PNDM4 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 2.",
"acronym": "ADMIO2.",
"accession": "DI-04749",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. ",
"keywords": null
},
{
"identifier": "Diabetes, deafness, developmental delay, and short stature syndrome.",
"acronym": "DDDS.",
"accession": "DI-06812",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive, multisystem disorder characterized by childhood-onset non-autoimmune diabetes mellitus, short stature, bilateral sensorineural deafness, developmental delay, mildly impaired intellectual development, and microcephaly. ",
"keywords": "KW-0209:Deafness.; KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "
},
{
"identifier": "Diamond-Blackfan anemia 21.",
"acronym": "DBA21.",
"accession": "DI-06526",
"synonyms": null,
"cross_references": "MeSH; D029503.",
"definition": "An autosomal recessive form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. DBA21 patients manifest bone marrow failure, short stature, facial and acromelic dysmorphic features, and intellectual disability. ",
"keywords": "KW-1024:Diamond-Blackfan anemia.; "
},
{
"identifier": "Diarrhea 13.",
"acronym": "DIAR13.",
"accession": "DI-06658",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive disorder characterized by neonatal onset of recurrent vomiting and diarrhea, leading to severe failure to thrive. ",
"keywords": null
},
{
"identifier": "Mitochondrial complex I deficiency, nuclear type 36.",
"acronym": "MC1DN36.",
"accession": "DI-06016",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN36 is characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. MC1DN36 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
}
]
}