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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3060&ordering=-synonyms",
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"results": [
{
"identifier": "Cortisone reductase deficiency 2.",
"acronym": "CORTRD2.",
"accession": "DI-05184",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males. ",
"keywords": null
},
{
"identifier": "Immune dysregulation, autoimmunity, and autoinflammation.",
"acronym": "IDAA.",
"accession": "DI-06764",
"synonyms": null,
"cross_references": "MeSH; D007154.",
"definition": "An autosomal dominant disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, immune dysregulation, and increased levels of proinflammatory cytokines. ",
"keywords": null
},
{
"identifier": "Arthrogryposis, distal, 1B.",
"acronym": "DA1B.",
"accession": "DI-03302",
"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 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 115 with autoinflammation.",
"acronym": "IMD115.",
"accession": "DI-06795",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by combined immunodeficiency, recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. ",
"keywords": null
},
{
"identifier": "Niemann-Pick disease C2.",
"acronym": "NPC2.",
"accession": "DI-02056",
"synonyms": null,
"cross_references": "MeSH; D052556.",
"definition": "A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
},
{
"identifier": "Immunodeficiency 101, varicella zoster virus-specific.",
"acronym": "IMD101.",
"accession": "DI-06422",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 102.",
"acronym": "IMD102.",
"accession": "DI-06439",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation. ",
"keywords": null
},
{
"identifier": "Cardiofaciocutaneous syndrome 2.",
"acronym": "CFC2.",
"accession": "DI-03779",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spastic ataxia 3, autosomal recessive.",
"acronym": "SPAX3.",
"accession": "DI-04017",
"synonyms": null,
"cross_references": "MeSH; D002524.",
"definition": "A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Rothmund-Thomson syndrome 2.",
"acronym": "RTS2.",
"accession": "DI-02274",
"synonyms": null,
"cross_references": "MeSH; D011038.",
"definition": "A form of Rothmund-Thomson syndrome, a disorder characterized by sparse hair, eyebrows and eyelashes, juvenile cataracts, and poikiloderma, a genodermatosis presenting with mottled pigmentation, telangiectasia and epidermal atrophy. Additional features are short stature, dysplastic nails, and skeletal and dental abnormalities. RTS2 is an autosomal recessive form frequently accompanied by an increased risk of osteosarcoma in childhood and skin cancer later in life. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Cowden syndrome 4.",
"acronym": "CWS4.",
"accession": "DI-03695",
"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
},
{
"identifier": "Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection.",
"acronym": "IMD107.",
"accession": "DI-06476",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by increased susceptibility to invasive and severe Staphylococcus aureus infection, causing life-threatening skin or pulmonary necrosis. Clinically, penetrance is incomplete and expressivity is variable. ",
"keywords": null
},
{
"identifier": "Cowden syndrome 5.",
"acronym": "CWS5.",
"accession": "DI-03696",
"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
},
{
"identifier": "Immunodeficiency 109 with lymphoproliferation.",
"acronym": "IMD109.",
"accession": "DI-06628",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immune disorder characterized by recurrent sinopulmonary infections, susceptibility to infection with Epstein-Barr virus (EBV), persistent EBV viremia, and EBV-induced lymphoproliferation or B-cell lymphoma. ",
"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
},
{
"identifier": "Cardiofaciocutaneous syndrome 4.",
"acronym": "CFC4.",
"accession": "DI-03781",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "
},
{
"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": "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 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": "Systemic lupus erythematosus.",
"acronym": "SLE.",
"accession": "DI-02648",
"synonyms": null,
"cross_references": "MeSH; D008180.",
"definition": "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. ",
"keywords": "KW-0772:Systemic lupus erythematosus.; "
}
]
}