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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5040&ordering=synonyms",
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{
"identifier": "Dyskeratosis congenita, autosomal dominant, 6.",
"acronym": "DKCA6.",
"accession": "DI-04521",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 1.",
"acronym": "DKCB1.",
"accession": "DI-00408",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 2.",
"acronym": "DKCB2.",
"accession": "DI-03167",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 3.",
"acronym": "DKCB3.",
"accession": "DI-03168",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 5.",
"acronym": "DKCB5.",
"accession": "DI-03755",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 6.",
"acronym": "DKCB6.",
"accession": "DI-04424",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 7.",
"acronym": "DKCB7.",
"accession": "DI-04522",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, autosomal recessive, 8.",
"acronym": "DKCB8.",
"accession": "DI-06549",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Additional DKCB8 features include microcephaly, intrauterine growth retardation, and developmental anomalies in some patients. DKCB8 patients exhibit normal global telemore length, although there is evidence of telomere instability. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskeratosis congenita, digenic.",
"acronym": "DKCD.",
"accession": "DI-06506",
"synonyms": null,
"cross_references": "MeSH; D019871.",
"definition": "A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance. ",
"keywords": "KW-1011:Dyskeratosis congenita.; "
},
{
"identifier": "Dyskinesia with orofacial involvement, autosomal recessive.",
"acronym": "DSKOR.",
"accession": "DI-06289",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "An autosomal recessive disorder characterized by abnormal involuntary movements mainly affecting the limbs and causing walking difficulties, oro-facial dyskinesia, and speech delay. Some patients develop neuropsychiatric features. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. ",
"keywords": null
},
{
"identifier": "Dyskinesia, familial, with facial myokymia.",
"acronym": "FDFM.",
"accession": "DI-03514",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages. ",
"keywords": null
},
{
"identifier": "Dyskinesia, limb and orofacial, infantile-onset.",
"acronym": "IOLOD.",
"accession": "DI-04707",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2I.",
"acronym": "CMD2I.",
"accession": "DI-06740",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2I is an autosomal recessive, severe form characterized by onset in infancy or childhood. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Dysostosis multiplex, Ain-Naz type.",
"acronym": "DMAN.",
"accession": "DI-06118",
"synonyms": null,
"cross_references": "MeSH; D004413.",
"definition": "An autosomal recessive, severe skeletal disease characterized by features of dysostosis multiplex, severe short stature, coarse facies with broad nose and prominent lips, protruding abdomens, and progressive skeletal changes causing gradual mobility loss. Death in childhood or early adulthood may occur. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Dyssegmental dysplasia Silverman-Handmaker type.",
"acronym": "DDSH.",
"accession": "DI-01512",
"synonyms": null,
"cross_references": "MedGen; C1857100.",
"definition": "The dyssegmental dysplasias are rare, autosomal recessive skeletal dysplasias with anisospondyly and micromelia. There are two recognized types: the severe, lethal DDSH and the milder Rolland-Desbuquois form. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocoele. The endochondral growth plate is short, the calcospherites (which are spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 2H.",
"acronym": "CMD2H.",
"accession": "DI-06595",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2G.",
"acronym": "CMD2G.",
"accession": "DI-06435",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Dystonia 22, adult-onset.",
"acronym": "DYT22AO.",
"accession": "DI-06727",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 26, myoclonic.",
"acronym": "DYT26.",
"accession": "DI-04408",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Dystonia 27.",
"acronym": "DYT27.",
"accession": "DI-04449",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. ",
"keywords": "KW-1023:Dystonia.; "
}
]
}