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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4580&ordering=identifier",
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"results": [
{
"identifier": "Nemaline myopathy 10.",
"acronym": "NEM10.",
"accession": "DI-04292",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 2.",
"acronym": "NEM2.",
"accession": "DI-02033",
"synonyms": "NEB-related nemaline myopathy.; ",
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 5A, autosomal recessive, severe infantile.",
"acronym": "NEM5A.",
"accession": "DI-02036",
"synonyms": "Amish nemaline myopathy.; ANM.; Nemaline myopathy Amish type.; TNNT1-related nemaline myopathy.; ",
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5A is a severe and progressive form characterized by symptom onset soon after birth or in early infancy. Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips. Proximal contractures progressively weaken and a pectus carinatum deformity develops before children die of respiratory insufficiency, usually in the second year. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 5B, autosomal recessive, childhood-onset.",
"acronym": "NEM5B.",
"accession": "DI-06692",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5B is characterized by proximal muscle weakness of the lower and upper limbs, gait abnormalities, and delayed motor development in some affected individuals. Most patients remain ambulatory even into late adulthood and develop restrictive respiratory insufficiency with decreased forced vital capacity. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 5C, autosomal dominant.",
"acronym": "NEM5C.",
"accession": "DI-06693",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM5C is a relatively mild skeletal muscle disorder appearing in the first or second decades. Main clinical features include difficulty walking on the heels, waddling gait, proximal muscle weakness affecting the upper and lower limbs, and Gowers sign. Patients remain ambulatory into late adulthood. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 6.",
"acronym": "NEM6.",
"accession": "DI-02960",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 7.",
"acronym": "NEM7.",
"accession": "DI-02037",
"synonyms": "CFL2-related nemaline myopathy.; Nemaline myopathy 7, autosomal recessive.; ",
"cross_references": "MeSH; D017696.",
"definition": "A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. Nemaline myopathy type 7 presents at birth with hypotonia and generalized weakness. Major motor milestones are delayed, but independent ambulation is achieved. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 8.",
"acronym": "NEM8.",
"accession": "DI-03802",
"synonyms": "Nemaline myopathy 8, autosomal recessive.; ",
"cross_references": "MeSH; D017696.",
"definition": "A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nemaline myopathy 9.",
"acronym": "NEM9.",
"accession": "DI-04073",
"synonyms": null,
"cross_references": "MeSH; D017696.",
"definition": "An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM9 phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. ",
"keywords": "KW-1057:Nemaline myopathy.; "
},
{
"identifier": "Nephrogenic syndrome of inappropriate antidiuresis.",
"acronym": "NSIAD.",
"accession": "DI-02040",
"synonyms": null,
"cross_references": "MedGen; C1845202.",
"definition": "Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis. ",
"keywords": null
},
{
"identifier": "Nephrolithiasis, calcium oxalate, 1.",
"acronym": "CAON1.",
"accession": "DI-04782",
"synonyms": "Calcium oxalate urolithiasis.; Kidney stones.; Urolithiasis, calcium oxalate.; ",
"cross_references": "MeSH; D053040.",
"definition": "A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON1 is characterized by calcium oxalate kidney stones. ",
"keywords": null
},
{
"identifier": "Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis.",
"acronym": "CAON2.",
"accession": "DI-06686",
"synonyms": null,
"cross_references": "MeSH; D053040.",
"definition": "A form of nephrolithiasis, a condition in which urinary supersaturation leads to calcium oxalate stone formation in the urinary system. CAON2 is an autosomal dominant form often resultings in nephrocalcinosis. ",
"keywords": null
},
{
"identifier": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1.",
"acronym": "NPHLOP1.",
"accession": "DI-01797",
"synonyms": null,
"cross_references": "MeSH; D053040.",
"definition": "A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. ",
"keywords": null
},
{
"identifier": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2.",
"acronym": "NPHLOP2.",
"accession": "DI-01798",
"synonyms": null,
"cross_references": "MeSH; D053040.",
"definition": "A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis. ",
"keywords": null
},
{
"identifier": "Nephrolithiasis, X-linked recessive, with renal failure.",
"acronym": "XRN.",
"accession": "DI-00801",
"synonyms": "Nephrolithiasis 1.; NPHL1.; ",
"cross_references": "MeSH; D053040.",
"definition": "An X-linked recessive renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XRN patients present with hypercalciuria, nephrocalcinosis, renal stones and renal insufficiency. Patients lack urinary acidification defects, rickets, and osteomalacia. ",
"keywords": null
},
{
"identifier": "Nephronophthisis 1.",
"acronym": "NPHP1.",
"accession": "DI-00803",
"synonyms": "Familial juvenile nephronophthisis 1.; ",
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 11.",
"acronym": "NPHP11.",
"accession": "DI-02898",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo- interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 12.",
"acronym": "NPHP12.",
"accession": "DI-03051",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Some patients manifest extra-renal features including retinal, skeletal and central nervous system defects. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 13.",
"acronym": "NPHP13.",
"accession": "DI-03326",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
},
{
"identifier": "Nephronophthisis 14.",
"acronym": "NPHP14.",
"accession": "DI-03547",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "An autosomal recessive disorder manifesting as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. ",
"keywords": "KW-0983:Nephronophthisis.; KW-1186:Ciliopathy.; "
}
]
}