{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4580&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4540&ordering=synonyms","results":[{"identifier":"Cardiofacioneurodevelopmental syndrome.","acronym":"CFNDS.","accession":"DI-05989","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia. ","keywords":"KW-1186:Ciliopathy.; "},{"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 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 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 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 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":"Cardiofaciocutaneous syndrome 3.","acronym":"CFC3.","accession":"DI-03780","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. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures. ","keywords":"KW-0038:Ectodermal dysplasia.; KW-0122:Cardiomyopathy.; KW-0991:Intellectual disability.; "},{"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":"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 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":"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":"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":"Iminoglycinuria.","acronym":"IG.","accession":"DI-02940","synonyms":null,"cross_references":"MeSH; D000608.","definition":"A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. ","keywords":null},{"identifier":"Cortisone reductase deficiency 1.","acronym":"CORTRD1.","accession":"DI-01436","synonyms":null,"cross_references":"MeSH; D008661.","definition":"An autosomal recessive 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":"Cardioacrofacial dysplasia 2.","acronym":"CAFD2.","accession":"DI-05998","synonyms":null,"cross_references":"MeSH; D017880.","definition":"An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures. ","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":"Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity.","acronym":"T-CMVA.","accession":"DI-01182","synonyms":null,"cross_references":"MeSH; D015551.","definition":"An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. ","keywords":null},{"identifier":"Corticosterone methyloxidase 2 deficiency.","acronym":"CMO-2 deficiency.","accession":"DI-01435","synonyms":null,"cross_references":"MedGen; CN074247.","definition":"Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum. ","keywords":null},{"identifier":"Imagawa-Matsumoto syndrome.","acronym":"IMMAS.","accession":"DI-05768","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities. ","keywords":"KW-0991:Intellectual disability.; "}]}