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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2060&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2020&ordering=identifier",
"results": [
{
"identifier": "Dystonia-deafness syndrome 1.",
"acronym": "DDS1.",
"accession": "DI-00412",
"synonyms": "DJO.; Dystonia, juvenile-onset.; ",
"cross_references": "MeSH; D004421.",
"definition": "An autosomal dominant form of dystonia with juvenile onset, associated with congenital or childhood-onset sensorineural deafness. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Some DDS1 patients have dysmorphic features, skeletal anomalies, and/or mild developmental delay with impaired intellectual development. ",
"keywords": "KW-0209:Deafness.; KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia, dopa-responsive.",
"acronym": "DRD.",
"accession": "DI-00415",
"synonyms": "Autosomal dominant dopa-responsive dystonia.; Autosomal dominant Segawa syndrome.; DRD.; Dystonia 5.; Dystonia-5.; Dystonia-parkinsonism with diurnal fluctuation.; DYT5.; Progressive dystonia with diurnal fluctuation.; ",
"cross_references": "MeSH; D020821.",
"definition": "A form of dystonia that responds to L-DOPA treatment without side effects. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DRD typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and exercise. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency.",
"acronym": "DRDSPRD.",
"accession": "DI-00411",
"synonyms": "Motor and cognitive disorder due to sepiapterin reductase deficiency.; Sepiapterin reductase deficiency.; SPR deficiency.; ",
"cross_references": "MeSH; D011596.",
"definition": "A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"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.; "
},
{
"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": "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": "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": "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": "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 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 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 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 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 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 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 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 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 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 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 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.; "
}
]
}