Human Disease List
GET /api/human_diseases/?format=api&offset=5400&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5420&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5380&ordering=-identifier", "results": [ { "identifier": "Congenital bile acid synthesis defect 2.", "acronym": "CBAS2.", "accession": "DI-00330", "synonyms": "Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency.; ", "cross_references": "MeSH; D002780.", "definition": "A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. ", "keywords": "KW-0988:Intrahepatic cholestasis.; " }, { "identifier": "Congenital bile acid synthesis defect 1.", "acronym": "CBAS1.", "accession": "DI-00329", "synonyms": "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency.; Neonatal progressive intrahepatic cholestasis.; PFIC4.; Progressive familial intrahepatic cholestasis type 4.; ", "cross_references": "MeSH; D002780.", "definition": "A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis. ", "keywords": "KW-0988:Intrahepatic cholestasis.; " }, { "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": "Congenital bilateral absence of the vas deferens.", "acronym": "CBAVD.", "accession": "DI-01389", "synonyms": "CAVD.; ", "cross_references": "MeSH; D052801.", "definition": "An autosomal recessive disease characterized by vas deferens aplasia resulting in azoospermia and male infertility. CBAVD may occur in isolation or as a manifestation of cystic fibrosis. ", "keywords": null }, { "identifier": "Congenital arthrogryposis with anterior horn cell disease.", "acronym": "CAAHD.", "accession": "DI-00643", "synonyms": "LAAHD.; Lethal arthrogryposis with anterior horn cell disease.; ", "cross_references": "MeSH; D016472.", "definition": "An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe. ", "keywords": null }, { "identifier": "Congenital anomalies of the kidney and urinary tract 1.", "acronym": "CAKUT1.", "accession": "DI-04107", "synonyms": "Non-syndromic renal hypodysplasia 1.; Renal hypodysplasia, nonsyndromic, 1.; RHDNS1.; ", "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. ", "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": "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 2.", "acronym": "CAKUT2.", "accession": "DI-04535", "synonyms": "Hydronephrosis due to PUJO.; MCRD.; Multicystic renal dysplasia, bilateral.; Pelviureteric junction obstruction.; PUJO.; UPJO.; Ureteropelvic junction obstruction.; ", "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. ", "keywords": null }, { "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": "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": "Cone-rod synaptic disorder, congenital non-progressive.", "acronym": "CRSD.", "accession": "DI-00378", "synonyms": "CSNB2B.; Incomplete autosomal recessive CSNB.; Incomplete congenital stationary night blindness autosomal recessive.; Night blindness, congenital stationary, 2B.; ", "cross_references": "MeSH; D014786.", "definition": "A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. ", "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 dystrophy, X-linked 1.", "acronym": "CORDX1.", "accession": "DI-00327", "synonyms": "COD1.; Cone dystrophy X-linked 1.; ", "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. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms. ", "keywords": "KW-0182:Cone-rod dystrophy.; " }, { "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": "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 9.", "acronym": "CORD9.", "accession": "DI-02490", "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 dystrophy 7.", "acronym": "CORD7.", "accession": "DI-00322", "synonyms": null, "cross_references": "MeSH; D000071700.", "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 dystrophy 6.", "acronym": "CORD6.", "accession": "DI-00321", "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 dystrophy 5.", "acronym": "CORD5.", "accession": "DI-00320", "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.; " } ] }