Human Disease List
GET /api/human_diseases/?format=api&offset=5860&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5880&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5840&ordering=-identifier", "results": [ { "identifier": "Cataract 30, multiple types.", "acronym": "CTRCT30.", "accession": "DI-03825", "synonyms": "Pulverulent cataract 30.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 2, multiple types.", "acronym": "CTRCT2.", "accession": "DI-01425", "synonyms": "Cataract 2, multiple types, with or without microcornea.; Cataract Coppock-like.; Cataract embryonic nuclear.; CCL.; Variable zonular pulverulent cataract.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 23, multiple types.", "acronym": "CTRCT23.", "accession": "DI-01874", "synonyms": "Isolated microphthalmia with cataract 4.; Lamellar cataract 23.; MCOPCT4.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 22, multiple types.", "acronym": "CTRCT22.", "accession": "DI-01233", "synonyms": "Autosomal recessive congenital nuclear cataract 2.; CATCN2.; Nuclear cataract 22.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 21, multiple types.", "acronym": "CTRCT21.", "accession": "DI-01394", "synonyms": "Cataract, pulverulent or cerulean, with or without microcornea.; Cataract 21, multiple types, with or without microcornea.; Cataract pulverulent juvenile-onset.; CCA4.; Congenital cataract blue dot type 4.; Congenital cataract cerulean type 4.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust- like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 20, multiple types.", "acronym": "CTRCT20.", "accession": "DI-03776", "synonyms": null, "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 1, multiple types.", "acronym": "CTRCT1.", "accession": "DI-02470", "synonyms": "CAE1.; Cataract 1, multiple types, with or without microcornea.; Cataract Duffy-linked.; Cataract-microcornea syndrome.; Cataract zonular pulverulent 1.; CCMC.; CZNP.; CZP.; CZP1.; Pulverulent zonular cataract.; Zonular nuclear pulverulent cataract.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 18.", "acronym": "CTRCT18.", "accession": "DI-03191", "synonyms": "Autosomal recessive congenital cataract 2.; CATC2.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 17, multiple types.", "acronym": "CTRCT17.", "accession": "DI-01234", "synonyms": "Autosomal recessive congenital nuclear cataract 3.; Cataract 17, multiple types, with or without microcornea.; CATCN3.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 16, multiple types.", "acronym": "CTRCT16.", "accession": "DI-02998", "synonyms": "Congenital lamellar cataract.; CTPP2.; Posterior polar cataract 2.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 15, multiple types.", "acronym": "CTRCT15.", "accession": "DI-03782", "synonyms": null, "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 14, multiple types.", "acronym": "CTRCT14.", "accession": "DI-02471", "synonyms": "CAE3.; CZP3.; Zonular pulverulent cataract 3.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 13, with adult i phenotype.", "acronym": "CTRCT13.", "accession": "DI-03830", "synonyms": null, "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 12, multiple types.", "acronym": "CTRCT12.", "accession": "DI-01215", "synonyms": null, "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 11, multiple types.", "acronym": "CTRCT11.", "accession": "DI-02184", "synonyms": "Cataract 11 with microphthalmia and neurodevelopmental abnormalities.; Cataract posterior polar 4.; CPP4.; CTPP4.; Syndromic cataract 11.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Cataract 10, multiple types.", "acronym": "CTRCT10.", "accession": "DI-01423", "synonyms": "Cataract, congenital, zonular with sutural opacities.; CCZS.; ", "cross_references": "MeSH; D002386.", "definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. ", "keywords": "KW-0898:Cataract.; " }, { "identifier": "Caspase-8 deficiency.", "acronym": "CASP8D.", "accession": "DI-01326", "synonyms": null, "cross_references": "MedGen; C1846545.", "definition": "Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95- induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization. ", "keywords": null }, { "identifier": "Carpenter syndrome 2.", "acronym": "CRPT2.", "accession": "DI-03635", "synonyms": null, "cross_references": "MeSH; D000168.", "definition": "An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Carpenter syndrome 1.", "acronym": "CRPT1.", "accession": "DI-01325", "synonyms": "ACPS2.; ACPS II.; Acrocephalopolysyndactyly 2.; Acrocephalopolysyndactyly type II.; Carpenter syndrome.; ", "cross_references": "MeSH; D000168.", "definition": "A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Carpal tunnel syndrome 2.", "acronym": "CTS2.", "accession": "DI-06003", "synonyms": null, "cross_references": "MeSH; D002349.", "definition": "An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis. ", "keywords": null } ] }