{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2420&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2380&ordering=-identifier","results":[{"identifier":"Multicentric carpotarsal osteolysis syndrome.","acronym":"MCTO.","accession":"DI-03436","synonyms":"Autosomal dominant multicentric osteolysis.; Hereditary osteolysis of carpal bones with or without nephropathy.; ","cross_references":"MeSH; D010014.","definition":"A rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Intellectual disability and minor facial anomalies have been noted in some patients. ","keywords":null},{"identifier":"Mullerian aplasia and hyperandrogenism.","acronym":"MULLAPL.","accession":"DI-01999","synonyms":"Mullerian duct failure and hyperandrogenism.; ","cross_references":"MeSH; D058489.","definition":"A disorder of sex development. Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism. ","keywords":null},{"identifier":"Mullegama-Klein-Martinez syndrome.","acronym":"MKMS.","accession":"DI-05502","synonyms":"NEDXCF.; Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.; ","cross_references":"MeSH; D065886.","definition":"An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. ","keywords":null},{"identifier":"Mulibrey nanism.","acronym":"MUL.","accession":"DI-02001","synonyms":"Muscle-liver-brain-eye nanism.; Perheentupa syndrome.; Pericardial constriction and growth failure.; ","cross_references":"MeSH; D050336.","definition":"An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Muir-Torre syndrome.","acronym":"MRTES.","accession":"DI-02000","synonyms":"MTS.; ","cross_references":"MedGen; C1321489.","definition":"Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. ","keywords":null},{"identifier":"Muenke syndrome.","acronym":"MNKS.","accession":"DI-00784","synonyms":"FGFR3-associated coronal synostosis.; FGFR3-related craniosynostosis.; FGFR3-related isolated coronal synostosis.; Muenke non-syndromic coronal craniosynostosis.; ","cross_references":"MeSH; D003398.","definition":"A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero- posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, intellectual disability and respiratory insufficiency. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Mucopolysaccharidosis-plus syndrome.","acronym":"MPSPS.","accession":"DI-04927","synonyms":null,"cross_references":"MeSH; D009083.","definition":"A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPSPS is an autosomal recessive form characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, intellectual disability, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 9.","acronym":"MPS9.","accession":"DI-00782","synonyms":"Hyaluronidase deficiency.; MPS IX.; Mucopolysaccharidosis type IX.; ","cross_references":"MeSH; D009083.","definition":"A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 7.","acronym":"MPS7.","accession":"DI-00781","synonyms":"Beta-glucuronidase deficiency.; GUSB deficiency.; MPS VII.; Mucopolysaccharidosis type VII.; Sly syndrome.; ","cross_references":"MeSH; D016538.","definition":"A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 6.","acronym":"MPS6.","accession":"DI-00780","synonyms":"ARSB deficiency.; Arylsulfatase B deficiency.; Maroteaux-Lamy syndrome.; MPS VI.; Mucopolysaccharidosis type VI.; N-acetylgalactosamine-4-sulfatase deficiency.; ","cross_references":"MeSH; D009087.","definition":"A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS6 is an autosomal recessive form characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 4B.","acronym":"MPS4B.","accession":"DI-00779","synonyms":"Morquio's syndrome B.; Morquio syndrome B.; MPS IVB.; MPS-IVB.; Mucopolysaccharidosis type IVB.; ","cross_references":"MeSH; D009085.","definition":"A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 4A.","acronym":"MPS4A.","accession":"DI-00778","synonyms":"Galactosamine-6-sulfatase deficiency.; GALNS deficiency.; Morquio's syndrome A.; Morquio A disease.; Morquio syndrome A.; MPS IVA.; Mucopolysaccharidosis type IVA.; ","cross_references":"MeSH; D009085.","definition":"A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 3D.","acronym":"MPS3D.","accession":"DI-00777","synonyms":"MPS IIID.; Mucopolysaccharidosis type IIID.; N-acetylglucosamine-6-sulfatase deficiency.; Sanfilippo D syndrome.; ","cross_references":"MeSH; D009084.","definition":"A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 3C.","acronym":"MPS3C.","accession":"DI-00776","synonyms":"Acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency.; MPS IIIC.; Mucopolysaccharidosis type IIIC.; Sanfilippo syndrome C.; ","cross_references":"MeSH; D009084.","definition":"A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 3B.","acronym":"MPS3B.","accession":"DI-00775","synonyms":"MPS IIIB.; Mucopolysaccharidosis type IIIB.; N-acetyl-alpha-D-glucosaminidase deficiency.; NAGLU deficiency.; Sanfilippo syndrome B.; ","cross_references":"MeSH; D009084.","definition":"A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 3A.","acronym":"MPS3A.","accession":"DI-00774","synonyms":"Heparan sulfate sulfatase deficiency.; MPS IIIA.; Mucopolysaccharidosis type IIIA.; Sanfilippo syndrome A.; Sulfamidase deficiency.; ","cross_references":"MeSH; D009084.","definition":"A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 2.","acronym":"MPS2.","accession":"DI-00773","synonyms":"Hunter syndrome.; IDS deficiency.; Iduronate 2-sulfatase deficiency.; MPS II.; Mucopolysaccharidosis type II.; SIDS deficiency.; Sulfoiduronate sulfatase deficiency.; ","cross_references":"MeSH; D016532.","definition":"An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 1S.","acronym":"MPS1S.","accession":"DI-00772","synonyms":"Alpha-L-iduronidase deficiency.; MPS IS.; MPS-IS.; MPS V.; Mucopolysaccharidosis type IS.; Mucopolysaccharidosis type V.; Scheie syndrome.; ","cross_references":"MeSH; D008059.","definition":"A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 1H/S.","acronym":"MPS1H/S.","accession":"DI-00771","synonyms":"Alpha-L-iduronidase deficiency.; Hurler-Scheie syndrome.; MPS-IH/S.; Mucopolysaccharidosis type IH/S.; ","cross_references":"MeSH; D008059.","definition":"A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. ","keywords":"KW-0510:Mucopolysaccharidosis.; "},{"identifier":"Mucopolysaccharidosis 1H.","acronym":"MPS1H.","accession":"DI-00770","synonyms":"Alpha-L-iduronidase deficiency.; Hurler's syndrome.; Hurler syndrome.; MPS IH.; MPS-IH.; Mucopolysaccharidosis type IH.; ","cross_references":"MeSH; D008059.","definition":"A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. ","keywords":"KW-0510:Mucopolysaccharidosis.; "}]}