{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2840&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2800&ordering=synonyms","results":[{"identifier":"Inclusion body myopathy and brain white matter abnormalities.","acronym":"IBMWMA.","accession":"DI-06329","synonyms":"MSP6.; Multisystem proteinopathy 6.; ","cross_references":"MeSH; D057180.","definition":"An autosomal dominant, adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Cognitive impairment or frontotemporal dementia occurs in some patients. ","keywords":null},{"identifier":"Marshall-Smith syndrome.","acronym":"MRSHSS.","accession":"DI-03505","synonyms":"MSS.; ","cross_references":"MeSH; D019465.","definition":"A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, intellectual disability, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis. Inheritance is autosomal dominant. ","keywords":null},{"identifier":"Immunodeficiency 110 with lymphoproliferation.","acronym":"IMD110.","accession":"DI-03600","synonyms":"MST1 deficiency.; STK4 deficiency.; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations.; TIIAC.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive, primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T-cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect. Patients are at risk for developing lymphoproliferative disorders or lymphoma. ","keywords":null},{"identifier":"Myopathy, centronuclear, X-linked.","acronym":"CNMX.","accession":"DI-00254","synonyms":"MTM1.; Myotubular myopathy type 1.; X-linked myotubular myopathy.; XLMTM.; ","cross_references":"MeSH; D020914.","definition":"A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. ","keywords":null},{"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":"Multiple sulfatase deficiency.","acronym":"MSD.","accession":"DI-00791","synonyms":"Mucosulfatidosis.; Sulfatidosis juvenile Austin type.; ","cross_references":"MeSH; D052517.","definition":"A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post- translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. ","keywords":"KW-0478:Metachromatic leukodystrophy.; KW-0977:Ichthyosis.; "},{"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":"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":"Basal cell carcinoma.","acronym":"BCC.","accession":"DI-02338","synonyms":"Multiple basal cell carcinoma.; Non-syndromic basal cell carcinoma.; ","cross_references":"MeSH; D002280.","definition":"A common malignant skin neoplasm that typically appears on hair- bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. ","keywords":null},{"identifier":"Lethal congenital contracture syndrome 3.","acronym":"LCCS3.","accession":"DI-01893","synonyms":"Multiple contractural syndrome Israeli Bedouin type B.; ","cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS3 patients present at birth with severe multiple joint contractures and severe muscle wasting and atrophy, mainly in the legs. Death occurs minutes to hours after birth due to respiratory insufficiency. The phenotype can be distinguished from that of LCCS1 by the absence of hydrops, fractures and multiple pterygia, and from LCCS2 by the absence of neurogenic bladder defect. ","keywords":null},{"identifier":"Lethal congenital contracture syndrome 1.","acronym":"LCCS1.","accession":"DI-00644","synonyms":"Multiple contracture syndrome Finnish type.; ","cross_references":"MeSH; D001176.","definition":"A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. ","keywords":null},{"identifier":"Gastrointestinal defects and immunodeficiency syndrome 2.","acronym":"GIDID2.","accession":"DI-06318","synonyms":"Multiple intestinal atresia with or without leukopenia.; ","cross_references":"MeSH; D007409.","definition":"A severe autosomal recessive disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen, bowel obstruction and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency. ","keywords":null},{"identifier":"Bartsocas-Papas syndrome.","acronym":"BPS.","accession":"DI-03375","synonyms":"Multiple pterygium syndrome, Aslan type.; Popliteal pterygium syndrome, lethal type.; ","cross_references":"MeSH; D011625.","definition":"An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported. ","keywords":null},{"identifier":"Leukodystrophy, demyelinating, autosomal dominant, adult-onset.","acronym":"ADLD.","accession":"DI-00646","synonyms":"Multiple sclerosis-like disorder.; Pelizaeus-Merzbacher disease autosomal dominant.; Pelizaeus-Merzbacher disease late-onset type.; ","cross_references":"MeSH; D020279.","definition":"A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. ","keywords":"KW-1026:Leukodystrophy.; "},{"identifier":"Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis.","acronym":"ABS2.","accession":"DI-00125","synonyms":"Multisynostotic osteodysgenesis with long bone fractures.; Osteodysgenesis multisynostotic with fractures.; Trapezoidocephaly-synostosis syndrome.; ","cross_references":"MeSH; D054882.","definition":"A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Pseudohypoaldosteronism 1B1, autosomal recessive.","acronym":"PHA1B1.","accession":"DI-01255","synonyms":"Multisystem pseudohypoaldosteronism.; PHA type I, autosomal recessive.; Pseudohypoaldosteronism type I, autosomal recessive.; ","cross_references":"MeSH; D011546.","definition":"A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. ","keywords":null},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5.","acronym":"MDDGA5.","accession":"DI-02953","synonyms":"Muscle-eye-brain disease FKRP-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5.; Walker-Warburg syndrome FKRP-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8.","acronym":"MDDGA8.","accession":"DI-03536","synonyms":"Muscle-eye-brain disease GTDC2-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8.; Walker-Warburg syndrome GTDC2-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7.","acronym":"MDDGA7.","accession":"DI-03441","synonyms":"Muscle-eye-brain disease ISPD-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.; Walker-Warburg syndrome ISPD-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6.","acronym":"MDDGA6.","accession":"DI-02962","synonyms":"Muscle-eye-brain disease LARGE-related.; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6.; Walker-Warburg syndrome LARGE-related.; ","cross_references":"MeSH; D058494.","definition":"An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. ","keywords":"KW-0451:Lissencephaly.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "}]}