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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5900&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5860&ordering=-synonyms",
"results": [
{
"identifier": "Cardiomyopathy, dilated, with hypergonadotropic hypogonadism.",
"acronym": "CMDHH.",
"accession": "DI-02906",
"synonyms": "Cardiogenital syndrome.; Cardiomyopathy congestive with hypergonadotropic hypogonadism.; Cardiomyopathy dilated with premature ovarian failure.; Cardiomyopathy with primary testicular failure.; Genital anomaly with cardiomyopathy.; Malouf syndrome.; Najjar syndrome.; ",
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiofaciocutaneous syndrome 1.",
"acronym": "CFC1.",
"accession": "DI-01318",
"synonyms": "Cardio-facio-cutaneous syndrome.; CFCS.; CFC syndrome.; ",
"cross_references": "MeSH; D006330.",
"definition": "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": "Mitochondrial complex IV deficiency, nuclear type 13.",
"acronym": "MC4DN13.",
"accession": "DI-04507",
"synonyms": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4.; CEMCOX4.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 9.",
"acronym": "MC4DN9.",
"accession": "DI-04506",
"synonyms": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3.; CEMCOX3.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, and characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 6.",
"acronym": "MC4DN6.",
"accession": "DI-03707",
"synonyms": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2.; CEMCOX2.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 2.",
"acronym": "MC4DN2.",
"accession": "DI-01608",
"synonyms": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1.; CEMCOX1.; Cytochrome c oxidase deficiency with fatal infantile cardioencephalomyopathy.; ",
"cross_references": "MeSH; D030401.",
"definition": "An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Jervell and Lange-Nielsen syndrome 2.",
"acronym": "JLNS2.",
"accession": "DI-00605",
"synonyms": "Cardioauditory syndrome of Jervell and Lange-Nielsen.; Congenital deafness and functional heart disease.; Long QT interval-deafness.; Prolonged QT interval in EKG and sudden death.; Surdo-cardiac syndrome.; ",
"cross_references": "MeSH; D029593.",
"definition": "An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. ",
"keywords": "KW-0209:Deafness.; KW-0454:Long QT syndrome.; "
},
{
"identifier": "Jervell and Lange-Nielsen syndrome 1.",
"acronym": "JLNS1.",
"accession": "DI-00604",
"synonyms": "Cardioauditory syndrome of Jervell and Lange-Nielsen.; Congenital deafness and functional heart disease.; Long QT interval-deafness.; Prolonged QT interval in EKG and sudden death.; Surdo-cardiac syndrome.; ",
"cross_references": "MeSH; D029593.",
"definition": "An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. ",
"keywords": "KW-0209:Deafness.; KW-0454:Long QT syndrome.; "
},
{
"identifier": "Cardiac valvular dysplasia 1.",
"acronym": "CVDP1.",
"accession": "DI-05005",
"synonyms": "Cardiac valvular defect, developmental.; CVDD.; ",
"cross_references": "MeSH; D006349.",
"definition": "An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves. ",
"keywords": null
},
{
"identifier": "Cleft palate, cardiac defects, and impaired intellectual development.",
"acronym": "CPCMR.",
"accession": "DI-05007",
"synonyms": "Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Progressive familial heart block 1B.",
"acronym": "PFHB1B.",
"accession": "DI-02825",
"synonyms": "Cardiac conduction block.; PFHBIB.; Progressive familial heart block type IB.; Right-bundle branch block.; ",
"cross_references": "MeSH; D002037.",
"definition": "A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. ",
"keywords": null
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 25.",
"acronym": "LGMDR25.",
"accession": "DI-04650",
"synonyms": "Cardiac arrhythmia with increased serum creatine kinase.; CARICK.; LGMD2X.; Limb-girdle muscular dystrophy 2X.; Muscular dystrophy, limb-girdle, type 2X.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive muscular disorder characterized by slowly progressive onset of proximal lower limb weakness in adulthood, syncopal episodes, and markedly increased serum creatine kinase, which can increase further after strenuous exercise. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Immunodeficiency 11 A.",
"acronym": "IMD11A.",
"accession": "DI-03761",
"synonyms": "CARD11 immunodeficiency.; IMD11.; Immunodeficiency 11.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. ",
"keywords": null
},
{
"identifier": "Carney complex 1.",
"acronym": "CNC1.",
"accession": "DI-01319",
"synonyms": "CAR.; Carney complex, type 1.; Carney myxoma-endocrine complex.; Carney syndrome.; LAMB syndrome.; Myxoma, spotty pigmentation, and endocrine overactivity.; NAME syndrome.; ",
"cross_references": "MeSH; D056733.",
"definition": "CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. ",
"keywords": null
},
{
"identifier": "Osteopetrosis, autosomal recessive 3.",
"acronym": "OPTB3.",
"accession": "DI-01252",
"synonyms": "Carbonic anhydrase II deficiency syndrome.; Guibaud-Vainsel syndrome.; Marble brain disease.; Osteopetrosis with renal tubular acidosis.; ",
"cross_references": "MeSH; D010022.",
"definition": "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB3 is associated with renal tubular acidosis, cerebral calcification (marble brain disease) and in some cases with intellectual disability. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Congenital disorder of glycosylation 1C.",
"acronym": "CDG1C.",
"accession": "DI-00335",
"synonyms": "Carbohydrate-deficient glycoprotein syndrome type V.; CDGS5.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1D.",
"acronym": "CDG1D.",
"accession": "DI-00336",
"synonyms": "Carbohydrate-deficient glycoprotein syndrome type IV.; CDGS4.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2A.",
"acronym": "CDG2A.",
"accession": "DI-00347",
"synonyms": "Carbohydrate-deficient glycoprotein syndrome type II.; CDGIIa.; CDG IIa.; CDG-IIa.; CDGS type II.; Congenital disorder of glycosylation type IIa.; ",
"cross_references": "MeSH; D018981.",
"definition": "A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1B.",
"acronym": "CDG1B.",
"accession": "DI-00334",
"synonyms": "Carbohydrate-deficient glycoprotein syndrome type Ib.; CDG gastrointestinal type.; CDGIb.; CDG Ib.; CDG-Ib.; CDGS1B.; Congenital disorder of glycosylation type Ib.; Mannosephosphate isomerase deficiency.; MPI deficiency.; Protein-losing enteropathy-hepatic fibrosis syndrome.; Saguenay-Lac Saint-Jean syndrome.; SLSJ syndrome.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 1A.",
"acronym": "CDG1A.",
"accession": "DI-00333",
"synonyms": "Carbohydrate-deficient glycoprotein syndrome type Ia.; CDGIa.; CDG Ia.; CDG-Ia.; CDGS1A.; Congenital disorder of glycosylation type Ia.; Jaeken's syndrome.; Jaeken syndrome.; Phosphomannomutase 2 deficiency.; PMM2 deficiency.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
}
]
}