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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2660&ordering=-synonyms",
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"results": [
{
"identifier": "Hartnup disorder.",
"acronym": "HND.",
"accession": "DI-01695",
"synonyms": null,
"cross_references": "MedGen; C0018609.",
"definition": "Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy and hearing loss 1.",
"acronym": "CRDHL1.",
"accession": "DI-04912",
"synonyms": null,
"cross_references": "MeSH; D054062.",
"definition": "An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0209:Deafness.; "
},
{
"identifier": "Cone-rod dystrophy and hearing loss 2.",
"acronym": "CRDHL2.",
"accession": "DI-05510",
"synonyms": null,
"cross_references": "MeSH; D054062.",
"definition": "An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; KW-0209:Deafness.; "
},
{
"identifier": "Immunodeficiency 20.",
"acronym": "IMD20.",
"accession": "DI-04050",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ",
"keywords": null
},
{
"identifier": "Congenital bile acid synthesis defect 6.",
"acronym": "CBAS6.",
"accession": "DI-04924",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Heart-hand syndrome Slovenian type.",
"acronym": "HHS-Slovenian.",
"accession": "DI-01697",
"synonyms": null,
"cross_references": "MedGen; C1857829.",
"definition": "Heart-hand syndrome (HHS) is a clinically and genetically heterogeneous disorder characterized by the co-occurrence of a congenital cardiac disease and limb malformations. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 51.",
"acronym": "MRT51.",
"accession": "DI-04633",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "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": "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": "Heinz body anemias.",
"acronym": "HEIBAN.",
"accession": "DI-01698",
"synonyms": null,
"cross_references": "MedGen; C0700299.",
"definition": "Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency. ",
"keywords": null
},
{
"identifier": "Cone-rod dystrophy, X-linked 3.",
"acronym": "CORDX3.",
"accession": "DI-00328",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ",
"keywords": "KW-0182:Cone-rod dystrophy.; "
},
{
"identifier": "Cone-rod synaptic disorder syndrome, congenital non-progressive.",
"acronym": "CRSDS.",
"accession": "DI-05888",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis. ",
"keywords": null
},
{
"identifier": "Kaya-Barakat-Masson syndrome.",
"acronym": "KABAMAS.",
"accession": "DI-05991",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by impaired intellectual development, absent speech, hypotonia, profound developmental and motor delay with dystonia, poor coordination and spasticity, and visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Myopia 25, autosomal dominant.",
"acronym": "MYP25.",
"accession": "DI-04910",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. ",
"keywords": null
},
{
"identifier": "Hematuria, benign familial, 2.",
"acronym": "BFH2.",
"accession": "DI-06644",
"synonyms": null,
"cross_references": "MeSH; D006417.",
"definition": "An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. ",
"keywords": null
},
{
"identifier": "Heme oxygenase 1 deficiency.",
"acronym": "HMOX1D.",
"accession": "DI-03193",
"synonyms": null,
"cross_references": "MeSH; D000743.",
"definition": "A disease characterized by impaired stress hematopoiesis, resulting in marked erythrocyte fragmentation and intravascular hemolysis, coagulation abnormalities, endothelial damage, and iron deposition in renal and hepatic tissues. Clinical features include persistent hemolytic anemia, asplenia, nephritis, generalized erythematous rash, growth retardation and hepatomegaly. ",
"keywords": null
},
{
"identifier": "Hemifacial myohyperplasia.",
"acronym": "HFMH.",
"accession": "DI-06873",
"synonyms": null,
"cross_references": "MeSH; D005146.",
"definition": "A rare disease characterized by facial asymmetry due to unilateral muscular hypertrophy mimicking spasm and orofacial dystonia. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2A.",
"acronym": "CMD2A.",
"accession": "DI-00229",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 10.",
"acronym": "MRD10.",
"accession": "DI-03253",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "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": "Congenital anomalies of kidney and urinary tract 3.",
"acronym": "CAKUT3.",
"accession": "DI-05447",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. CAKUT3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Retinitis pigmentosa 61.",
"acronym": "RP61.",
"accession": "DI-03234",
"synonyms": null,
"cross_references": "MeSH; D012174.",
"definition": "A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. ",
"keywords": "KW-0682:Retinitis pigmentosa.; "
}
]
}