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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1340&ordering=-synonyms",
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"results": [
{
"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": "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": "Digital arthropathy-brachydactyly, familial.",
"acronym": "FDAB.",
"accession": "DI-03486",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. ",
"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": "Deafness, autosomal dominant, 79.",
"acronym": "DFNA79.",
"accession": "DI-05958",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "A form of non-syndromic, progressive sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA79 affected females appear to have milder hearing loss than males. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Congenital afibrinogenemia.",
"acronym": "CAFBN.",
"accession": "DI-01387",
"synonyms": null,
"cross_references": "MedGen; CN071205.",
"definition": "Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. ",
"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": "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": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.",
"acronym": "CAKUTHED.",
"accession": "DI-05075",
"synonyms": null,
"cross_references": "MeSH; D014564.",
"definition": "An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay. ",
"keywords": null
},
{
"identifier": "Acromelic frontonasal dysostosis.",
"acronym": "AFND.",
"accession": "DI-04203",
"synonyms": null,
"cross_references": "MeSH; D000013.",
"definition": "A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V- shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 87.",
"acronym": "DFNA87.",
"accession": "DI-06615",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA87 is characterized by prelingual, profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Deafness, autosomal dominant, 85.",
"acronym": "DFNA85.",
"accession": "DI-06578",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA85 is characterized by progressive hearing loss, with onset in childhood or young adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Congenital bilateral aplasia of the vas deferens, X-linked.",
"acronym": "CBAVDX.",
"accession": "DI-04817",
"synonyms": null,
"cross_references": "MeSH; D052801.",
"definition": "A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility. ",
"keywords": null
},
{
"identifier": "Brachydactyly B2.",
"acronym": "BDB2.",
"accession": "DI-02844",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. ",
"keywords": null
},
{
"identifier": "Craniofacial microsomia 2.",
"acronym": "CFM2.",
"accession": "DI-06720",
"synonyms": null,
"cross_references": "MeSH; D006053.",
"definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Congenital bile acid synthesis defect 3.",
"acronym": "CBAS3.",
"accession": "DI-00331",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Deafness, congenital, unilateral or asymmetric.",
"acronym": "DCUA.",
"accession": "DI-04598",
"synonyms": null,
"cross_references": "MeSH; D046088.",
"definition": "An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Congenital bile acid synthesis defect 5.",
"acronym": "CBAS5.",
"accession": "DI-04360",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 77.",
"acronym": "IMD77.",
"accession": "DI-06056",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder characterized by recurrent, persistent bacterial and fungal infections with multiple unusual organisms. Skin and pulmonary infections are the most common. Patient macrophages show impaired killing of intracellular bacteria and organisms, including non-tubercular mycobacteria, Pseudomonas, Candida, and Aspergillus. ",
"keywords": null
}
]
}