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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2040&ordering=-synonyms",
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"results": [
{
"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": "Familial gestational hyperthyroidism.",
"acronym": "HTFG.",
"accession": "DI-02821",
"synonyms": null,
"cross_references": "MeSH; D006980.",
"definition": "A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy. ",
"keywords": null
},
{
"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": "Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.",
"acronym": "GRIDHH.",
"accession": "DI-04841",
"synonyms": null,
"cross_references": "MeSH; D009123.",
"definition": "An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Autoinflammatory syndrome, familial, Behcet-like 1.",
"acronym": "AIFBL1.",
"accession": "DI-04635",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ",
"keywords": null
},
{
"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": "Amyotrophic lateral sclerosis 13.",
"acronym": "ALS13.",
"accession": "DI-02859",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Autoinflammatory syndrome, familial, with or without immunodeficiency.",
"acronym": "AISIMD.",
"accession": "DI-06141",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported. ",
"keywords": null
},
{
"identifier": "IgA nephropathy.",
"acronym": "IgAN.",
"accession": "DI-01809",
"synonyms": null,
"cross_references": "MedGen; C3160719.",
"definition": "Most common primary glomerulonephritis, which is partly due to aberrant or incomplete galactosylation of IgA1 molecules. ",
"keywords": null
},
{
"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": "Harel-Yoon syndrome.",
"acronym": "HAYOS.",
"accession": "DI-04881",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "A syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Advanced sleep phase syndrome, familial, 1.",
"acronym": "FASPS1.",
"accession": "DI-01548",
"synonyms": null,
"cross_references": "MeSH; D020178.",
"definition": "An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms. ",
"keywords": null
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 23.",
"acronym": "LGMDR23.",
"accession": "DI-05343",
"synonyms": null,
"cross_references": "MeSH; D049288.",
"definition": "A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid- adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
}
]
}