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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4900&ordering=identifier",
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"results": [
{
"identifier": "Nevus comedonicus.",
"acronym": "NC.",
"accession": "DI-04767",
"synonyms": null,
"cross_references": "MeSH; D009506.",
"definition": "A rare type of epidermal nevus characterized by closely arranged, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material, and their appearance resembles black dots. NC may be non-pyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Most commonly it affects the face and neck area and, by exception, other anatomical regions, including genital area, palms, and soles. NC lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. ",
"keywords": null
},
{
"identifier": "Nevus spilus.",
"acronym": "NEVUSPI.",
"accession": "DI-04451",
"synonyms": "Nevoid lentigo.; Speckled lentiginous nevus.; ",
"cross_references": "MeSH; D009508.",
"definition": "A congenital hyperpigmented patch, which progressively evolves, developing dark macules and papules during childhood and adolescence. Over time, nevus spilus may give rise to common lentigines, melanocytic nevi, Spitz nevi, and melanoma. ",
"keywords": null
},
{
"identifier": "Nicolaides-Baraitser syndrome.",
"acronym": "NCBRS.",
"accession": "DI-03463",
"synonyms": "NBS.; Sparse hair and intellectual development syndrome.; ",
"cross_references": "MeSH; D019066.",
"definition": "A rare disorder characterized by severe intellectual disability with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. ",
"keywords": "KW-0991:Intellectual disability.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Niemann-Pick disease A.",
"acronym": "NPDA.",
"accession": "DI-02053",
"synonyms": "Classical Niemann-Pick disease.; Niemann-Pick disease acute neuronopathic form.; Niemann-Pick disease acute neurovisceral form.; Niemann-Pick disease classical infantile form.; Niemann-Pick disease intermediate protracted neurovisceral.; Niemann-Pick disease neuronopathic type.; Niemann-Pick disease type I.; NPA.; Sphingomyelinase deficiency.; Sphingomyelin lipidosis.; ",
"cross_references": "MeSH; D052536.",
"definition": "An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, intellectual disability, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
},
{
"identifier": "Niemann-Pick disease B.",
"acronym": "NPDB.",
"accession": "DI-02054",
"synonyms": "Niemann-Pick disease adult non-neuronopathic form.; Niemann-Pick disease intermediate with visceral involvement and rapid progression.; Niemann-Pick disease type E.; Niemann-Pick disease type F.; Niemann-Pick disease type I.; Niemann-Pick disease visceral form.; NPB.; Sphingomyelinase deficiency.; Sphingomyelin lipidosis.; ",
"cross_references": "MeSH; D052537.",
"definition": "A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
},
{
"identifier": "Niemann-Pick disease C1.",
"acronym": "NPC1.",
"accession": "DI-02055",
"synonyms": "Neurovisceral storage disease with vertical supranuclear ophthalmoplegia.; Niemann-Pick disease chronic neuronopathic form.; Niemann-Pick disease Nova Scotian type.; Niemann-Pick disease subacute juvenile form.; Niemann-Pick disease type D.; Niemann-Pick disease type II.; Niemann-Pick disease with cholesterol esterification block.; Niemann-Pick disease without sphingomyelinase deficiency.; NPC.; ",
"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 C1 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. An allelic variant of Niemann-Pick disease type C1 is found in people with Nova Scotia ancestry. Patients with the Nova Scotian clinical variant are less severely affected. ",
"keywords": "KW-1054:Niemann-Pick disease.; "
},
{
"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": "Night blindness, congenital stationary, 1A.",
"acronym": "CSNB1A.",
"accession": "DI-00375",
"synonyms": "Complete X-linked CSNB.; Congenital stationary night blindness with myopia.; Hemeralopia-myopia.; Nyctalopia.; XLCSNB.; X-linked congenital stationary night blindness.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1B.",
"acronym": "CSNB1B.",
"accession": "DI-00377",
"synonyms": "Complete autosomal recessive CSNB.; Complete congenital stationary night blindness autosomal recessive.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark- adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b- waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1C.",
"acronym": "CSNB1C.",
"accession": "DI-02588",
"synonyms": "Complete autosomal recessive CSNB.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1D.",
"acronym": "CSNB1D.",
"accession": "DI-03077",
"synonyms": "Complete autosomal recessive CSNB.; ",
"cross_references": "MeSH; D009755.",
"definition": "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1E.",
"acronym": "CSNB1E.",
"accession": "DI-03426",
"synonyms": "Complete autosomal recessive CSNB.; ",
"cross_references": "MeSH; D009755.",
"definition": "An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b- wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1F.",
"acronym": "CSNB1F.",
"accession": "DI-03687",
"synonyms": "Complete autosomal recessive CSNB.; Complete congenital stationary night blindness 1F autosomal recessive.; ",
"cross_references": "MeSH; D009755.",
"definition": "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1G.",
"acronym": "CSNB1G.",
"accession": "DI-04432",
"synonyms": null,
"cross_references": "MeSH; D009755.",
"definition": "An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1H.",
"acronym": "CSNB1H.",
"accession": "DI-04757",
"synonyms": null,
"cross_references": "MeSH; D009755.",
"definition": "A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 1I.",
"acronym": "CSNB1I.",
"accession": "DI-05643",
"synonyms": null,
"cross_references": "MeSH; D009755.",
"definition": "A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, 2A.",
"acronym": "CSNB2A.",
"accession": "DI-00376",
"synonyms": "Congenital stationary night blindness type 2.; Incomplete X-linked CSNB.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, autosomal dominant 1.",
"acronym": "CSNBAD1.",
"accession": "DI-00371",
"synonyms": "Rhodopsin-related congenital stationary night blindness.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, autosomal dominant 2.",
"acronym": "CSNBAD2.",
"accession": "DI-00372",
"synonyms": "Congenital stationary night blindness Rambusch type.; Hemeralopia.; Hemeralopia congenital essential.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, autosomal dominant 3.",
"acronym": "CSNBAD3.",
"accession": "DI-00373",
"synonyms": "Congenital stationary night blindness Nougaret type.; Hemeralopia congenital essential.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
}
]
}