{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2120&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2080&ordering=-synonyms","results":[{"identifier":"Cherubism.","acronym":"CRBM.","accession":"DI-00296","synonyms":null,"cross_references":"MeSH; D002636.","definition":"An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. ","keywords":null},{"identifier":"Ehlers-Danlos syndrome, musculocontractural type 2.","acronym":"EDSMC2.","accession":"DI-03960","synonyms":null,"cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Baraitser-Winter syndrome 2.","acronym":"BRWS2.","accession":"DI-03417","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Ehlers-Danlos syndrome, periodontal type, 2.","acronym":"EDSPD2.","accession":"DI-04849","synonyms":null,"cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Chilblain lupus 2.","acronym":"CHBL2.","accession":"DI-03338","synonyms":null,"cross_references":"MeSH; D008178.","definition":"A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. ","keywords":null},{"identifier":"Hydrolethalus syndrome 1.","acronym":"HLS1.","accession":"DI-01760","synonyms":null,"cross_references":"MeSH; D006849.","definition":"A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery. ","keywords":"KW-1186:Ciliopathy.; "},{"identifier":"Childhood cancer retinoblastoma.","acronym":"RB.","accession":"DI-01340","synonyms":null,"cross_references":"MedGen; C1867262.","definition":"Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 23.","acronym":"ALS23.","accession":"DI-05172","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Chilton-Okur-Chung neurodevelopmental syndrome.","acronym":"CHOCNS.","accession":"DI-06399","synonyms":null,"cross_references":"MeSH; D065886.","definition":"A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"El Hayek-Chahrour neurodevelopmental syndrome.","acronym":"NEDEHC.","accession":"DI-06902","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive neurodevelopmental disorder characterized by lack of speech, intellectual disability, autism, and developmental delay. ","keywords":"KW-0991:Intellectual disability.; KW-1269:Autism.; "},{"identifier":"Chitayat syndrome.","acronym":"CHYTS.","accession":"DI-04884","synonyms":null,"cross_references":"MeSH; D055091.","definition":"An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. ","keywords":null},{"identifier":"Amyotrophic lateral sclerosis 24.","acronym":"ALS24.","accession":"DI-05206","synonyms":null,"cross_references":"MeSH; D000690.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Choanal atresia and lymphedema.","acronym":"CATLPH.","accession":"DI-03023","synonyms":null,"cross_references":"MeSH; D008209.","definition":"A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. ","keywords":null},{"identifier":"Immune dysregulation, autoimmunity, and autoinflammation.","acronym":"IDAA.","accession":"DI-06764","synonyms":null,"cross_references":"MeSH; D007154.","definition":"An autosomal dominant disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, immune dysregulation, and increased levels of proinflammatory cytokines. ","keywords":null},{"identifier":"Achromatopsia 5.","acronym":"ACHM5.","accession":"DI-05080","synonyms":null,"cross_references":"MeSH; D003117.","definition":"A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Intellectual developmental disorder, autosomal dominant 55, with seizures.","acronym":"MRD55.","accession":"DI-05178","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD55 patients suffer from seizures appearing during the first years of life. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cholestasis of pregnancy, intrahepatic 3.","acronym":"ICP3.","accession":"DI-03634","synonyms":null,"cross_references":"MeSH; D002780.","definition":"A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ","keywords":"KW-0988:Intrahepatic cholestasis.; "},{"identifier":"Encephalopathy, progressive, with amyotrophy and optic atrophy.","acronym":"PEAMO.","accession":"DI-04873","synonyms":null,"cross_references":"MeSH; D020271.","definition":"An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Bardet-Biedl syndrome 1.","acronym":"BBS1.","accession":"DI-00159","synonyms":null,"cross_references":"MeSH; D020788.","definition":"A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ","keywords":"KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "},{"identifier":"Nephronophthisis-like nephropathy 2.","acronym":"NPHPL2.","accession":"DI-06186","synonyms":null,"cross_references":"MeSH; D052177.","definition":"A disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. NPHPL2 is an autosomal recessive form characterized by onset of progressive renal insufficiency in the first decades of life. ","keywords":"KW-0983:Nephronophthisis.; "}]}