{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5060&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5020&ordering=-synonyms","results":[{"identifier":"Bethlem myopathy 2.","acronym":"BTHLM2.","accession":"DI-04487","synonyms":"EDS, myopathic.; EDSMYP.; Ehlers-Danlos syndrome, myopathic.; ","cross_references":"MeSH; D009136.","definition":"A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM2 inheritance is autosomal dominant. ","keywords":"KW-0912:Congenital muscular dystrophy.; "},{"identifier":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2.","acronym":"EDSKSCL2.","accession":"DI-03408","synonyms":"EDSKMH.; Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss.; ","cross_references":"MeSH; D034381.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion in urine. ","keywords":"KW-0209:Deafness.; KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, classic-like.","acronym":"EDSCLL1.","accession":"DI-01097","synonyms":"EDS due to TNX deficiency.; Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency.; Ehlers-Danlos syndrome due to tenascin X deficiency.; Tenascin-X deficiency.; TNX deficiency.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCLL1 patients lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos syndrome. Delayed wound healing is only present in a subset of patients. EDSCLL1 inheritance is autosomal recessive. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, periodontal type, 1.","acronym":"EDSPD1.","accession":"DI-04848","synonyms":"EDS8.; EDS VIII.; Ehlers-Danlos syndrome, periodontitis type.; Ehlers-Danlos syndrome, periodontosis type.; Ehlers-Danlos syndrome, type VIII.; ","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. EDSPD1 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. EDSPD1 inheritance is autosomal dominant. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, arthrochalasia type, 2.","acronym":"EDSARTH2.","accession":"DI-05166","synonyms":"EDS7B.; EDS VIIB.; Ehlers-Danlos syndrome, type VIIB, autosomal dominant.; Ehlers-Danlos syndrome 7B.; ","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. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, kyphoscoliotic type, 1.","acronym":"EDSKSCL1.","accession":"DI-00440","synonyms":"EDS6.; EDS6A.; EDS VI.; EDS VIA.; Ehlers-Danlos syndrome 6.; Ehlers-Danlos syndrome kyphoscoliotic type.; Ehlers-Danlos syndrome oculoscoliotic type.; Nevo syndrome.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, vascular type.","acronym":"EDSVASC.","accession":"DI-00439","synonyms":"EDS4.; EDS IV.; Ehlers-Danlos syndrome, type IV, autosomal dominant.; Ehlers-Danlos syndrome 4.; Ehlers-Danlos syndrome arterial type.; Ehlers-Danlos syndrome ecchymotic type.; Sack-Barabas syndrome.; ","cross_references":"MeSH; D004535.","definition":"A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, classic type, 2.","acronym":"EDSCL2.","accession":"DI-00437","synonyms":"EDS2.; EDS II.; Ehlers-Danlos syndrome, type II.; Ehlers-Danlos syndrome 2.; Ehlers-Danlos syndrome mild classic type.; Ehlers-Danlos syndrome mitis type.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Ehlers-Danlos syndrome, classic type, 1.","acronym":"EDSCL1.","accession":"DI-00436","synonyms":"EDS1.; EDS I.; Ehlers-Danlos syndrome, gravis type.; Ehlers-Danlos syndrome, severe classic type.; Ehlers-Danlos syndrome, type I.; Ehlers-Danlos syndrome 1.; ","cross_references":"MeSH; D004535.","definition":"A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"identifier":"Split-hand/foot malformation 6.","acronym":"SHFM6.","accession":"DI-02495","synonyms":"Ectrodactyly autosomal recessive.; ","cross_references":"MeSH; D017880.","definition":"A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting. ","keywords":null},{"identifier":"Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs.","acronym":"FDLAB.","accession":"DI-04142","synonyms":"Ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.; Shawaf-Traboulsi syndrome.; Traboulsi syndrome.; ","cross_references":"MeSH; D019465.","definition":"A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). ","keywords":null},{"identifier":"Ectodermal dysplasia-skin fragility syndrome.","acronym":"EDSFS.","accession":"DI-00429","synonyms":"Ectodermal dysplasia/skin fragility syndrome.; McGrath syndrome.; ","cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 4, hair/nail type.","acronym":"ECTD4.","accession":"DI-00427","synonyms":"Ectodermal dysplasia pure hair-nail type.; ","cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1063:Hypotrichosis.; "},{"identifier":"Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant.","acronym":"ECTD11A.","accession":"DI-03617","synonyms":"Ectodermal dysplasia hypohidrotic autosomal dominant.; HED.; ","cross_references":"MeSH; D053359.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia and immunodeficiency 2.","acronym":"EDAID2.","accession":"DI-00425","synonyms":"Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency autosomal dominant.; Ectodermal dysplasia hypohidrotic with immunodeficiency.; HED-ID.; ","cross_references":"MeSH; D004476.","definition":"A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia and immunodeficiency 1.","acronym":"EDAID1.","accession":"DI-00424","synonyms":"Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema.; Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked.; Ectodermal dysplasia anhidrotic with immune deficiency.; Ectodermal dysplasia hypohidrotic with immunodeficiency.; EDA-ID.; HED-ID.; Hyper-IgM immunodeficiency X-linked with ectodermal dysplasia hypohidrotic.; NEMO deficiency.; OLEDAID.; XHM-ED.; ","cross_references":"MeSH; D004476.","definition":"A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDAID1 is an X-linked recessive disorder characterized by absence of sweat glands, sparse scalp hair, rare conical teeth and immunological abnormalities resulting in severe infectious diseases. Severely affected individuals may also show lymphedema, osteopetrosis, and, rarely, hematologic abnormalities. The phenotype is highly variable, and may be fatal in childhood. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive.","acronym":"ECTD10B.","accession":"DI-00422","synonyms":"Ectodermal dysplasia anhidrotic.; Ectodermal dysplasia hypohidrotic autosomal recessive.; EDA.; HED.; ","cross_references":"MeSH; D053360.","definition":"A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.","acronym":"ECTD11B.","accession":"DI-03618","synonyms":"Ectodermal dysplasia anhidrotic.; Ectodermal dysplasia hypohidrotic autosomal recessive.; EDA.; HED.; ","cross_references":"MeSH; D053360.","definition":"A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.","acronym":"ECTD10A.","accession":"DI-00432","synonyms":"Ectodermal dysplasia 3.; Ectodermal dysplasia hypohidrotic autosomal dominant.; ED3.; EDA3.; HED.; ","cross_references":"MeSH; D053359.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Odonto-onycho-dermal dysplasia.","acronym":"OODD.","accession":"DI-00882","synonyms":"ECTD16.; Ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type.; Tricho-odonto-onycho-dermal dysplasia.; ","cross_references":"MeSH; D004476.","definition":"A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. ","keywords":"KW-0038:Ectodermal dysplasia.; "}]}