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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2120&ordering=synonyms",
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"results": [
{
"identifier": "Palmoplantar keratoderma, epidermolytic, 2.",
"acronym": "EPPK2.",
"accession": "DI-06700",
"synonyms": "Greither syndrome.; Keratosis of Greither.; ",
"cross_references": "MeSH; D053546.",
"definition": "A form of epidermolytic palmoplantar keratoderma, a dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. EPPK2 is an autosomal dominant form in which hyperkeratosis is restricted to palms and soles and is apparent from birth or childhood. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Griscelli syndrome 1.",
"acronym": "GS1.",
"accession": "DI-01686",
"synonyms": "Griscelli syndrome with primary neurologic impairment.; ",
"cross_references": "MedGen; C1859194.",
"definition": "Rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, silvery-gray hair and accumulation of melanosomes in melanocytes. GS1 patients show developmental delay, hypotonia and intellectual disability, without apparent immune abnormalities. ",
"keywords": null
},
{
"identifier": "Pseudoxanthoma elasticum.",
"acronym": "PXE.",
"accession": "DI-00959",
"synonyms": "Gronblad-Strandberg syndrome.; Gronblad-Strandberg-Touraine syndrome.; ",
"cross_references": "MeSH; D011561.",
"definition": "A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. ",
"keywords": null
},
{
"identifier": "Pituitary hormone deficiency, combined or isolated, 7.",
"acronym": "CPHD7.",
"accession": "DI-05359",
"synonyms": "Growth hormone deficiency, isolated, 5.; Growth hormone deficiency, isolated, type V.; IGHD5.; Isolated growth hormone deficiency, type V.; ",
"cross_references": "MeSH; D004393.",
"definition": "An autosomal recessive deficiency of growth hormone characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Growth hormone deficiency, isolated, 2.",
"acronym": "IGHD2.",
"accession": "DI-01842",
"synonyms": "Growth hormone deficiency isolated autosomal dominant.; IGHD II.; Isolated growth hormone deficiency type II.; Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant.; ",
"cross_references": "MeSH; D004393.",
"definition": "An autosomal dominant deficiency of growth hormone leading to short stature. Clinical severity is variable. Patients have a positive response and immunologic tolerance to growth hormone therapy. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Growth hormone deficiency, isolated, 1A.",
"acronym": "IGHD1A.",
"accession": "DI-01841",
"synonyms": "Growth hormone deficiency isolated autosomal recessive.; IGHD IA.; Illig-type growth hormone deficiency.; Isolated growth hormone deficiency type IA.; Pituitary dwarfism I.; Primordial dwarfism.; Sexual ateleiotic dwarfism.; ",
"cross_references": "MeSH; D004393.",
"definition": "An autosomal recessive, severe deficiency of growth hormone leading to dwarfism. Patients often develop antibodies to administered growth hormone. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive.",
"acronym": "GHISID1.",
"accession": "DI-01878",
"synonyms": "Growth hormone insensitivity due to postreceptor defect.; Laron syndrome due to a post-receptor defect.; Laron syndrome type II.; Laron type dwarfism II.; ",
"cross_references": "MeSH; D046150.",
"definition": "An autosomal recessive form of growth hormone insensitivity syndrome, a congenital disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to exogeneous growth hormone therapy, and recurrent infections. Most, but not all, patients have features of immune dysregulation. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Laron syndrome.",
"acronym": "LARS.",
"accession": "DI-01877",
"synonyms": "Growth hormone insensitivity syndrome.; Growth hormone receptor deficiency.; Laron dwarfism.; Laron type pituitary dwarfism I.; Pituitary dwarfism II.; ",
"cross_references": "MeSH; D046150.",
"definition": "A severe form of growth hormone insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to generate insulin-like growth factor I in response to growth hormone. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Myhre syndrome.",
"acronym": "MYHRS.",
"accession": "DI-03349",
"synonyms": "Growth-mental deficiency syndrome of Myhre.; LAPS syndrome.; Laryngotracheal stenosis, arthropathy, prognathism, and short stature.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by pre- and postnatal growth deficiency, intellectual disability, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur. ",
"keywords": null
},
{
"identifier": "GAPO syndrome.",
"acronym": "GAPOS.",
"accession": "DI-03790",
"synonyms": "Growth retardation, alopecia, pseudoanodontia, and optic atrophy.; ",
"cross_references": "MeSH; D006130.",
"definition": "An autosomal recessive disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Growth retardation, developmental delay, and facial dysmorphism.",
"acronym": "GDFD.",
"accession": "DI-02561",
"synonyms": "Growth retardation developmental delay coarse facies early death.; Lethal polymalformative syndrome Boissel type.; ",
"cross_references": "MeSH; D000015.",
"definition": "A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. ",
"keywords": null
},
{
"identifier": "Al Kaissi syndrome.",
"acronym": "ALKAS.",
"accession": "DI-05093",
"synonyms": "Growth retardation, spine malformation, dysmorphic facies, and developmental delay.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay. ",
"keywords": null
},
{
"identifier": "Insulin-like growth factor I deficiency.",
"acronym": "IGF1D.",
"accession": "DI-01827",
"synonyms": "Growth retardation with sensorineural deafness and mental retardation.; IGF1 deficiency.; ",
"cross_references": "MeSH; D006130.",
"definition": "An autosomal recessive disorder characterized by growth retardation, sensorineural deafness and intellectual disability. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Thyroid hormone resistance, generalized, autosomal recessive.",
"acronym": "GRTHR.",
"accession": "DI-03097",
"synonyms": "GTHR.; Refetoff syndrome.; Thyroid hormone unresponsiveness.; ",
"cross_references": "MeSH; D018382.",
"definition": "An autosomal recessive disorder characterized by goiter, clinical euthyroidism, end-organ unresponsiveness to thyroid hormone, abnormal growth and bone maturation, and deafness. Patients also have high levels of circulating thyroid hormones, with elevated thyroid stimulating hormone. ",
"keywords": null
},
{
"identifier": "Congenital erythropoietic porphyria.",
"acronym": "CEP.",
"accession": "DI-01401",
"synonyms": "Gunther disease.; ",
"cross_references": "MedGen; C2718078.",
"definition": "Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, X-linked, syndromic, Gustavson type.",
"acronym": "MRXSG.",
"accession": "DI-06831",
"synonyms": "Gustavson syndrome.; Intellectual developmental disorder with optic atrophy, deafness, and seizures.; Mental retardation with optic atrophy, deafness, and seizures.; ",
"cross_references": "MeSH; D038901.",
"definition": "An X-linked disorder characterized by profound intellectual disability, microcephaly, severe structural brain abnormalities, epileptic seizures, severe vision defect, hearing loss, congenital heart defects, psychomotor deficits, and death in infancy or early childhood. ",
"keywords": "KW-0209:Deafness.; KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Syndactyly 4.",
"acronym": "SDTY4.",
"accession": "DI-02353",
"synonyms": "Haas type syndactyly.; Polysyndactyly Haas type.; SD4.; Syndactyly type IV.; ",
"cross_references": "MeSH; D013576.",
"definition": "A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. ",
"keywords": null
},
{
"identifier": "Leukodystrophy, hypomyelinating, 6.",
"acronym": "HLD6.",
"accession": "DI-03778",
"synonyms": "HABC.; Hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum.; ",
"cross_references": "MeSH; D020279.",
"definition": "A neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Gracile bone dysplasia.",
"acronym": "GCLEB.",
"accession": "DI-03712",
"synonyms": "Habrodysplasia.; Lethal skeletal dysplasia with gracile bones.; Osteocraniosplenic syndrome.; Osteocraniostenosis.; ",
"cross_references": "MeSH; D019465.",
"definition": "A perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels. ",
"keywords": null
},
{
"identifier": "3-alpha-hydroxyacyl-CoA dehydrogenase deficiency.",
"acronym": "HADH deficiency.",
"accession": "DI-00002",
"synonyms": "HAD deficiency.; Hydroxyacyl-coenzyme A dehydrogenase deficiency.; SCHAD deficiency.; ",
"cross_references": "MeSH; D008659.",
"definition": "An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. ",
"keywords": null
}
]
}