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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4620&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4580&ordering=-synonyms",
"results": [
{
"identifier": "Wiedemann-Steiner syndrome.",
"acronym": "WDSTS.",
"accession": "DI-03533",
"synonyms": "Hairy elbows short stature facial dysmorphism and developmental delay.; Hypertrichosis cubiti facial dysmorphism and developmental delay.; WSS.; ",
"cross_references": "MeSH; D006983.",
"definition": "A syndrome characterized by hairy elbows (hypertrichosis cubiti), intellectual disability, a distinctive facial appearance, and short stature. Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures. ",
"keywords": null
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 1.",
"acronym": "CLN1.",
"accession": "DI-00810",
"synonyms": "Hagberg-Santavuori disease.; INCL.; Infantile neuronal ceroid lipofuscinosis.; Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.; Neuronal ceroid lipofuscinosis with variable age at onset.; Santavuori disease.; Santavuori-Haltia disease.; ",
"cross_references": "MeSH; D009472.",
"definition": "A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. 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. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Factor XII deficiency.",
"acronym": "FA12D.",
"accession": "DI-00487",
"synonyms": "HAF deficiency.; Hageman factor deficiency.; ",
"cross_references": "MeSH; D005175.",
"definition": "An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre- operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). ",
"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
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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 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": "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.; "
}
]
}