{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4680&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4640&ordering=-identifier","results":[{"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 9, hair/nail type.","acronym":"ECTD9.","accession":"DI-03620","synonyms":null,"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. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia). ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 7, hair/nail type.","acronym":"ECTD7.","accession":"DI-04166","synonyms":null,"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. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1063:Hypotrichosis.; "},{"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 3, Witkop type.","acronym":"ECTD3.","accession":"DI-01148","synonyms":"Dysplasia of nails with hypodontia.; Ectodermal dysplasia 3, tooth/nail type.; Hypodontia-nail dysgenesis.; TNS.; Tooth-and-nail syndrome.; Witkop 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 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. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 2, Clouston type.","acronym":"ECTD2.","accession":"DI-00431","synonyms":"Clouston syndrome.; Ectodermal dysplasia 2 hidrotic.; Ectodermal dysplasia hidrotic autosomal dominant.; ED2.; HED2.; ","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. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; "},{"identifier":"Ectodermal dysplasia 1, hypohidrotic, X-linked.","acronym":"XHED.","accession":"DI-00430","synonyms":"Christ-Siemens-Touraine syndrome.; CST syndrome.; ECTD1.; Ectodermal dysplasia 1.; Ectodermal dysplasia 1 hypohidrotic/hair/tooth type X-linked.; Ectodermal dysplasia anhidrotic.; ED1.; EDA.; EDA1.; XLHED.; ","cross_references":"MeSH; D053358.","definition":"A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 15, hypohidrotic/hair type.","acronym":"ECTD15.","accession":"DI-05636","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis.","acronym":"ECTD14.","accession":"DI-05382","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 13, hair/tooth type.","acronym":"ECTD13.","accession":"DI-04968","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type.","acronym":"ECTD12.","accession":"DI-04948","synonyms":null,"cross_references":"MeSH; D004476.","definition":"A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development 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 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 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 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":"Early-onset hypertension with severe exacerbation in pregnancy.","acronym":"EOHSEP.","accession":"DI-01513","synonyms":null,"cross_references":"MeSH; D006973.","definition":"Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. ","keywords":null},{"identifier":"Dystrophia myotonica 2.","acronym":"DM2.","accession":"DI-02024","synonyms":"Myotonic dystrophy 2.; PROMM.; Proximal myotonic myopathy.; Ricker syndrome.; ","cross_references":"MeSH; D020967.","definition":"A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. ","keywords":null},{"identifier":"Dystrophia myotonica 1.","acronym":"DM1.","accession":"DI-02023","synonyms":"DM.; Dystrophia myotonica.; Myotonic dystrophy 1.; Steinert disease.; Steinert myotonic dystrophy.; ","cross_references":"MeSH; D009223.","definition":"A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias. ","keywords":null},{"identifier":"Dystonia, early-onset, and/or spastic paraplegia.","acronym":"DYTSPG.","accession":"DI-06301","synonyms":null,"cross_references":"MeSH; D020821.","definition":"An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders. ","keywords":"KW-0890:Hereditary spastic paraplegia.; KW-1023:Dystonia.; "}]}