{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2640&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2600&ordering=-synonyms","results":[{"identifier":"Cone-rod dystrophy 20.","acronym":"CORD20.","accession":"DI-04189","synonyms":null,"cross_references":"MeSH; D058499.","definition":"A form of cone-rod dystrophy, 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":"Joubert syndrome 13.","acronym":"JBTS13.","accession":"DI-03232","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. ","keywords":"KW-0979:Joubert syndrome.; "},{"identifier":"Anterior segment dysgenesis 5.","acronym":"ASGD5.","accession":"DI-02157","synonyms":null,"cross_references":"MeSH; D005124.","definition":"A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ","keywords":null},{"identifier":"Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant.","acronym":"GHISID2.","accession":"DI-05897","synonyms":null,"cross_references":"MeSH; D046150.","definition":"An autosomal dominant form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. GHISID2 patients usually have delayed bone age, delayed puberty, and decreased serum IGF1. Some patients may have features of mild immune dysregulation, such as eczema, increased serum IgE, asthma, or celiac disease. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Cone-rod dystrophy 22.","acronym":"CORD22.","accession":"DI-06228","synonyms":null,"cross_references":"MeSH; D058499.","definition":"An autosomal recessive form of cone-rod dystrophy, 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":"Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies.","acronym":"GKAF.","accession":"DI-06106","synonyms":null,"cross_references":"MeSH; D000505.","definition":"An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "},{"identifier":"Cone-rod dystrophy 23.","acronym":"CORD23.","accession":"DI-06596","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal recessive form of cone-rod dystrophy, 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":"Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.","acronym":"GRIDHH.","accession":"DI-04841","synonyms":null,"cross_references":"MeSH; D009123.","definition":"An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Guttmacher syndrome.","acronym":"GUTTS.","accession":"DI-01691","synonyms":null,"cross_references":"MedGen; C1867801.","definition":"Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot- genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. ","keywords":null},{"identifier":"Cone-rod dystrophy 24.","acronym":"CORD24.","accession":"DI-06663","synonyms":null,"cross_references":"MeSH; D000071700.","definition":"An autosomal dominant form of cone-rod dystrophy, 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 3.","acronym":"CORD3.","accession":"DI-00319","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":"Anterior segment dysgenesis 6.","acronym":"ASGD6.","accession":"DI-04923","synonyms":null,"cross_references":"MeSH; D005124.","definition":"A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood. ","keywords":null},{"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.; "},{"identifier":"Hypertrophic osteoarthropathy, primary, autosomal dominant.","acronym":"PHOAD.","accession":"DI-06152","synonyms":null,"cross_references":"MeSH; D010004.","definition":"A form of primary hypertrophic osteoarthropathy, a disease characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and variable features of pachydermia that include thickened facial skin and a thickened scalp. PHOAD patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females. ","keywords":null},{"identifier":"Hamamy syndrome.","acronym":"HMMS.","accession":"DI-03480","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. ","keywords":"KW-0991:Intellectual disability.; "},{"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 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":"Harderoporphyria.","acronym":"HARPO.","accession":"DI-05848","synonyms":null,"cross_references":"MeSH; D011164.","definition":"An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"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":"Sacral defect with anterior meningocele.","acronym":"SDAM.","accession":"DI-02277","synonyms":null,"cross_references":"MedGen; C1838569.","definition":"Form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant. ","keywords":null}]}