{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1580","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1540","results":[{"identifier":"Cutis laxa, autosomal recessive, 1D.","acronym":"ARCL1D.","accession":"DI-06874","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1D features include skin laxity, thin and translucent skin with easy bruising, facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations. Skin laxity may progress with age. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 2A.","acronym":"ARCL2A.","accession":"DI-01461","synonyms":"ARCL2.; CL type IIA.; Cutis laxa, Debre type.; Cutis laxa autosomal recessive type IIA.; Cutis laxa with bone dystrophy.; Cutis laxa with congenital disorder of glycosylation.; Cutis laxa with growth and developmental delay.; Cutis laxa with joint laxity and retarded development.; ","cross_references":"MeSH; D003483.","definition":"A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 2B.","acronym":"ARCL2B.","accession":"DI-01462","synonyms":"CL type IIB.; Cutis laxa autosomal recessive type IIB.; Cutis laxa with progeroid features.; ","cross_references":"MeSH; D003483.","definition":"A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 2C.","acronym":"ARCL2C.","accession":"DI-04974","synonyms":"Cutis laxa autosomal recessive, type IIC.; ","cross_references":"MeSH; D003483.","definition":"A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 2D.","acronym":"ARCL2D.","accession":"DI-04975","synonyms":"Cutis laxa, autosomal recessive, type IID.; ","cross_references":"MeSH; D003483.","definition":"A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 2E.","acronym":"ARCL2E.","accession":"DI-06173","synonyms":"Cutis laxa, autosomal recessive, type IIE.; ","cross_references":"MeSH; D003483.","definition":"A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. ARCL2E patients present with cutis laxa, inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features including craniosynostosis, short stature, brachydactyly, and syndactyly. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 3A.","acronym":"ARCL3A.","accession":"DI-03310","synonyms":"Cutis laxa autosomal recessive type IIIA.; De Barsy syndrome.; De Barsy syndrome A.; Developmental delay-choreoathetosis-joint dislocation-lax skin.; Neurocutaneous syndrome Bicknell type.; Progeroid syndrome of De Barsy.; ","cross_references":"MeSH; D008607.","definition":"A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cutis laxa, autosomal recessive, 3B.","acronym":"ARCL3B.","accession":"DI-03319","synonyms":"Cutis laxa autosomal recessive type IIIB.; De Barsy syndrome B.; ","cross_references":"MeSH; D003483.","definition":"A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. ","keywords":null},{"identifier":"Cyanosis transient neonatal.","acronym":"TNCY.","accession":"DI-03171","synonyms":null,"cross_references":"MeSH; D003490.","definition":"A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. ","keywords":null},{"identifier":"Cyclic haematopoiesis.","acronym":"CH.","accession":"DI-01463","synonyms":"Cyclic neutropenia.; ","cross_references":"MeSH; D009503.","definition":"Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency. ","keywords":null},{"identifier":"Cylindromatosis, familial.","acronym":"FCYL.","accession":"DI-01564","synonyms":"Ancell-Spiegler cylindromas.; Dermal eccrine cylindromatosis.; Turban tumor syndrome.; ","cross_references":"MeSH; D012878.","definition":"A disorder characterized by multiple skin tumors that develop from skin appendages, such as hair follicles and sweat glands. Affected individuals typically develop large numbers of tumors called cylindromas that arise predominantly in hairy parts of the body with approximately 90% on the head and neck. In severely affected individuals, cylindromas may combine into a confluent mass which may ulcerate or become infected (turban tumor syndrome). Individuals with familial cylindromatosis occasionally develop other types of tumors including spiradenomas that begin in sweat glands, and trichoepitheliomas arising from hair follicles. ","keywords":null},{"identifier":"Cystathionine beta-synthase deficiency.","acronym":"CBSD.","accession":"DI-01464","synonyms":"CBS deficiency.; Homocystinuria due to cystathionine beta-synthase deficiency.; Homocystinuria with or without response to pyridoxine.; Hyperhomocysteinemia thrombotic CBS-related.; ","cross_references":"MeSH; D006712.","definition":"An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. ","keywords":null},{"identifier":"Cystathioninuria.","acronym":"CSTNU.","accession":"DI-01465","synonyms":"Cystathionase deficiency.; ","cross_references":"MeSH; D020138.","definition":"Autosomal recessive phenotype characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion. ","keywords":null},{"identifier":"Cystic fibrosis.","acronym":"CF.","accession":"DI-01466","synonyms":"Mucoviscidosis.; ","cross_references":"MeSH; D003550.","definition":"A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. ","keywords":null},{"identifier":"Cystinosis, adult, non-nephropathic type.","acronym":"CTNSANN.","accession":"DI-02893","synonyms":"Cystinosis adult nonnephropathic.; Cystinosis benign nonnephropathic.; Cystinosis ocular nonnephropathic.; ","cross_references":"MeSH; D003554.","definition":"A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. ","keywords":null},{"identifier":"Cystinosis, late-onset juvenile or adolescent nephropathic type.","acronym":"CTNSJAN.","accession":"DI-02894","synonyms":"Cystinosis intermediate.; ","cross_references":"MeSH; D003554.","definition":"A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. ","keywords":null},{"identifier":"Cystinosis, nephropathic type.","acronym":"CTNS.","accession":"DI-01467","synonyms":"Cystinosis atypical nephropathic.; Cystinosis infantile nephropathic.; Defect of cystinosin.; Defect of lysosomal cystine transport protein.; ","cross_references":"MeSH; D003554.","definition":"A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. ","keywords":null},{"identifier":"Cystinuria.","acronym":"CSNU.","accession":"DI-01468","synonyms":"CSNU1.; CSNU3.; Cystinuria 1.; Cystinuria type A.; Cystinuria type A/B.; Cystinuria type B.; Cystinuria type I.; Cystinuria type II.; Cystinuria type III.; Cystinuria type non-I.; ","cross_references":"MeSH; D003555.","definition":"An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. ","keywords":"KW-0199:Cystinuria.; "},{"identifier":"Czech dysplasia.","acronym":"CZECHD.","accession":"DI-03158","synonyms":"Czech dysplasia metatarsal type.; Pseudorheumatoid dysplasia progressive with hypoplastic toes.; Spondyloepiphyseal dysplasia with precocious osteoarthritis.; ","cross_references":"MeSH; D010009.","definition":"A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. ","keywords":null},{"identifier":"D-2-hydroxyglutaric aciduria 1.","acronym":"D2HGA1.","accession":"DI-00384","synonyms":"D2HA.; ","cross_references":"MeSH; D020739.","definition":"A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2- hydroxyglutaric acid in the urine. ","keywords":null}]}