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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4560&ordering=synonyms",
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"results": [
{
"identifier": "Cardiomyopathy, dilated, 1BB.",
"acronym": "CMD1BB.",
"accession": "DI-02483",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arthrogryposis, distal, 2B3.",
"acronym": "DA2B3.",
"accession": "DI-05570",
"synonyms": null,
"cross_references": "MeSH; D001176.",
"definition": "A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1S.",
"acronym": "CMD1S.",
"accession": "DI-00224",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Alport syndrome 2, autosomal recessive.",
"acronym": "ATS2.",
"accession": "DI-00080",
"synonyms": null,
"cross_references": "MeSH; D009394.",
"definition": "A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ",
"keywords": "KW-0023:Alport syndrome.; KW-0209:Deafness.; "
},
{
"identifier": "Adams-Oliver syndrome 2.",
"acronym": "AOS2.",
"accession": "DI-03223",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Ablepharon-macrostomia syndrome.",
"acronym": "AMS.",
"accession": "DI-04542",
"synonyms": null,
"cross_references": "MeSH; D008265.",
"definition": "A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "46,XX sex reversal 5.",
"acronym": "SRXX5.",
"accession": "DI-05853",
"synonyms": null,
"cross_references": "MeSH; D058531.",
"definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 15B.",
"acronym": "IMD15B.",
"accession": "DI-04000",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 15A.",
"acronym": "IMD15A.",
"accession": "DI-05387",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 14B, autosomal recessive.",
"acronym": "IMD14B.",
"accession": "DI-06085",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 120.",
"acronym": "IMD120.",
"accession": "DI-06904",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early childhood with recurrent upper and lower respiratory tract infections, lymphopenia, and hypogammaglobulinemia. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Additional variable features include hearing loss, speech delay, short stature, and mildly impaired intellectual development. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 12.",
"acronym": "IMD12.",
"accession": "DI-03911",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction.",
"acronym": "CMD1AA.",
"accession": "DI-00211",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency 119.",
"acronym": "IMD119.",
"accession": "DI-06903",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 114, folate-responsive.",
"acronym": "IMD114.",
"accession": "DI-06794",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by recurrent skin and respiratory infections, mucosal bleeding, oral ulcers, chronic diarrhea, and poor overall growth. Affected individuals have lymphopenia, low serum immunoglobulins, and impaired T cell proliferation. Some patients have global developmental delay. ",
"keywords": null
},
{
"identifier": "Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay.",
"acronym": "CCDDRD.",
"accession": "DI-06742",
"synonyms": null,
"cross_references": "MeSH; D000093922.",
"definition": "An autosomal recessive form of congenital cranial dysinnervation disorder. This term defines a heterogeneous group of neurodevelopmental disorders caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. CCDDRD is characterized by developmental delay, corneal opacity, absent corneal reflex, expressionless face with asymmetry, sensorineural hearing loss, trigeminal nerve hypoplasia, and bilateral agenesis or severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Additional features include hypotonia, impaired intellectual development, and behavioral abnormalities. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Immunodeficiency 113 with autoimmunity and autoinflammation.",
"acronym": "IMD113.",
"accession": "DI-06786",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent and severe infections, early-onset autoimmunity, inflammation, and facial dysmorphism. Features of autoimmunity and autoinflammation include hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 112.",
"acronym": "IMD112.",
"accession": "DI-06724",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunologic disorder characterized by variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and recurrent bacterial, viral, and fungal infections. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 7.",
"acronym": "CWS7.",
"accession": "DI-04679",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 6.",
"acronym": "CWS6.",
"accession": "DI-03697",
"synonyms": null,
"cross_references": "MeSH; D006223.",
"definition": "A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. ",
"keywords": null
}
]
}