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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6560&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6520&ordering=-synonyms",
"results": [
{
"identifier": "Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive.",
"acronym": "CLN4A.",
"accession": "DI-03163",
"synonyms": "Adult neuronal ceroid lipofuscinosis.; CLN6 disease Kufs type A.; Kufs disease.; Kufs disease autosomal recessive.; ",
"cross_references": "MeSH; D009472.",
"definition": "An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Fanconi renotubular syndrome 1.",
"acronym": "FRTS1.",
"accession": "DI-05857",
"synonyms": "Adult Fanconi syndrome.; Fanconi renotubular syndrome.; Fanconi syndrome without cystinosis.; FRTS.; Luder-Sheldon syndrome.; Renal Fanconi syndrome.; RFS.; ",
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Renal cysts and diabetes syndrome.",
"acronym": "RCAD.",
"accession": "DI-00967",
"synonyms": "ADTKD3.; Atypical familial juvenile hyperuricemic nephropathy.; Atypical FJHN.; CAKUT with diabetes.; Congenital anomalies of the kidney and urinary tract with diabetes.; Familial hypoplastic glomerulocystic kidney.; Glomerulocystic kidney disease hypoplastic type.; Maturity-onset diabetes of the young type 5.; MODY5.; Renal-diabetes MODY5 syndrome.; Tubulointerstitial kidney disease, autosomal dominant, 3.; ",
"cross_references": "MeSH; D003924.",
"definition": "An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Brain small vessel disease 1 with or without ocular anomalies.",
"acronym": "BSVD1.",
"accession": "DI-02182",
"synonyms": "ADT1P.; Brain small vessel disease with Axenfeld-Rieger anomaly.; Brain small vessel disease with hemorrhage.; Gould syndrome 1.; Hemiplegia infantile with porencephaly.; Leukoencephalopathy with Axenfeld-Rieger anomaly.; POREN1.; Porencephaly 1.; Porencephaly type 1.; Porencephaly type 1 autosomal dominant.; Retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant.; T1P.; ",
"cross_references": "MeSH; D001927.",
"definition": "An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid- filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies. ",
"keywords": null
},
{
"identifier": "Ataxia, sensory, 1, autosomal dominant.",
"acronym": "SNAX1.",
"accession": "DI-03449",
"synonyms": "ADSA.; ",
"cross_references": "MeSH; D001259.",
"definition": "A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). ",
"keywords": null
},
{
"identifier": "ACTH deficiency, isolated.",
"acronym": "IAD.",
"accession": "DI-00035",
"synonyms": "Adrenocorticotropic hormone deficiency.; ",
"cross_references": "MeSH; D007018.",
"definition": "An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low. ",
"keywords": null
},
{
"identifier": "Adrenal insufficiency, congenital, with 46,XY sex reversal.",
"acronym": "AICSR.",
"accession": "DI-03022",
"synonyms": "Adrenal insufficiency congenital with 46,XY sex reversal partial or complete.; P450scc deficiency.; ",
"cross_references": "MeSH; D047808.",
"definition": "A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. ",
"keywords": null
},
{
"identifier": "Adrenal hypoplasia, congenital.",
"acronym": "AHC.",
"accession": "DI-02426",
"synonyms": "Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism.; AHCH.; AHC with HHG.; AHC with isolated gonadotropin deficiency.; AHX.; Cytomegalic adrenocortical hypoplasia.; X-linked Addison disease.; X-linked adrenal hypoplasia congenital.; ",
"cross_references": "MeSH; D000309.",
"definition": "A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern. ",
"keywords": null
},
{
"identifier": "Adrenal hyperplasia 5.",
"acronym": "AH5.",
"accession": "DI-00045",
"synonyms": "Adrenal hyperplasia type V.; AH-V.; Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency.; ",
"cross_references": "MeSH; D000312.",
"definition": "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "Adrenal hyperplasia 4.",
"acronym": "AH4.",
"accession": "DI-00044",
"synonyms": "Adrenal hyperplasia type IV.; AH-IV.; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.; ",
"cross_references": "MeSH; D000312.",
"definition": "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "Adrenal hyperplasia 3.",
"acronym": "AH3.",
"accession": "DI-00043",
"synonyms": "Adrenal hyperplasia type III.; AH-III.; CAH1.; Congenital adrenal hyperplasia 1.; Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.; Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency.; ",
"cross_references": "MeSH; D000312.",
"definition": "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency.",
"acronym": "DISPORD.",
"accession": "DI-00601",
"synonyms": "Adrenal hyperplasia congenital due to cytochrome P450 oxidoreductase deficiency.; Congenital adrenal hyperplasia due to apparent combined P450C17 and P450C21 deficiency.; Cytochrome P450 oxidoreductase deficiency.; Disordered steroidogenesis due to POR deficiency.; POR deficiency.; ",
"cross_references": "MeSH; D000312.",
"definition": "A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 4.",
"acronym": "PPNAD4.",
"accession": "DI-04115",
"synonyms": "Adrenal Cushing syndrome due to PPNAD4.; Chromosome 19p13 duplication syndrome.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 3.",
"acronym": "PPNAD3.",
"accession": "DI-03239",
"synonyms": "Adrenal Cushing syndrome due to PPNAD3.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 2.",
"acronym": "PPNAD2.",
"accession": "DI-00941",
"synonyms": "Adrenal Cushing syndrome due to PPNAD2.; Primary pigmented micronodular adrenocortical disease 2.; Primary pigmented nodular adrenocortical disease-2.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow- to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Primary pigmented nodular adrenocortical disease 1.",
"acronym": "PPNAD1.",
"accession": "DI-00940",
"synonyms": "Adrenal Cushing syndrome due to PPNAD1.; Primary pigmented micronodular adrenocortical disease 1.; Primary pigmented nodular adrenocortical disease-1.; ",
"cross_references": "MeSH; D003480.",
"definition": "A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. PPNAD1 is most often diagnosed in patients with Carney complex, a multiple neoplasia syndrome. However it can also be observed in patients without other manifestations. ",
"keywords": "KW-1062:Cushing syndrome.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 8.",
"acronym": "BDPLT8.",
"accession": "DI-02867",
"synonyms": "ADP platelet receptor P2Y12 deficiency.; Bleeding disorder due to P2RY12 defect.; P2RY12 deficiency.; P2Y12 deficiency.; ",
"cross_references": "MeSH; D006470.",
"definition": "A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. ",
"keywords": null
},
{
"identifier": "Polycystic kidney disease 1 with or without polycystic liver disease.",
"acronym": "PKD1.",
"accession": "DI-00925",
"synonyms": "ADPKD.; ADPKD1.; Adult polycystic kidney disease type 1.; Autosomal dominant polycystic kidney disease 1.; PKD-1.; Polycystic kidney disease adult.; Polycystic kidney disease type I.; Polycystic kidneys.; Potter type III polycystic kidney disease.; ",
"cross_references": "MeSH; D016891.",
"definition": "An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Polycystic kidney disease 2 with or without polycystic liver disease.",
"acronym": "PKD2.",
"accession": "DI-00926",
"synonyms": "ADPKD2.; Adult polycystic kidney disease type 2.; Autosomal dominant polycystic kidney disease 2.; PKD-2.; Polycystic kidney disease adult type II.; ",
"cross_references": "MeSH; D016891.",
"definition": "An autosomal dominant disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end- stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 3.",
"acronym": "NPHP3.",
"accession": "DI-00805",
"synonyms": "Adolescent nephronophthisis.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
}
]
}