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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2900&ordering=synonyms",
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"results": [
{
"identifier": "Myotonia congenita, autosomal dominant.",
"acronym": "MCAD.",
"accession": "DI-01216",
"synonyms": "Myotonia levior.; THD.; Thomsen disease.; ",
"cross_references": "MeSH; D009224.",
"definition": "A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior). ",
"keywords": null
},
{
"identifier": "Dystrophia myotonica 2.",
"acronym": "DM2.",
"accession": "DI-02024",
"synonyms": "Myotonic dystrophy 2.; PROMM.; Proximal myotonic myopathy.; Ricker syndrome.; ",
"cross_references": "MeSH; D020967.",
"definition": "A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. ",
"keywords": null
},
{
"identifier": "Nabais Sa-de Vries syndrome 1.",
"acronym": "NSDVS1.",
"accession": "DI-05805",
"synonyms": "Nabais Sa-de Vries syndrome, type 1.; NEDMIDF.; Neurodevelopmental disorder with microcephaly and dysmorphic facies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, speech delay, and variable behavioral abnormalities. Affected individuals show congenital microcephaly and dysmorphic facial features, including round face, small palpebral fissures, highly arched eyebrows, and short nose. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Nabais Sa-de Vries syndrome 2.",
"acronym": "NSDVS2.",
"accession": "DI-05806",
"synonyms": "Nabais Sa-de Vries syndrome, type 2.; NEDMACE.; Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay apparent from birth, impaired intellectual development, speech delay, dysmorphic facial features, and additional anomalies including congenital heart defects, sleep disturbances, hypotonia, and variable endocrine abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Infantile sialic acid storage disorder.",
"acronym": "ISSD.",
"accession": "DI-01820",
"synonyms": "N-acetylneuraminic acid storage disease.; NSD.; ",
"cross_references": "MedGen; C2930923.",
"definition": "Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. ",
"keywords": null
},
{
"identifier": "Naegeli-Franceschetti-Jadassohn syndrome.",
"acronym": "NFJS.",
"accession": "DI-00797",
"synonyms": "Naegeli syndrome.; NFJ syndrome.; ",
"cross_references": "MeSH; D007645.",
"definition": "A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Kanzaki disease.",
"acronym": "KANZD.",
"accession": "DI-01857",
"synonyms": "NAGA deficiency type II.; Schindler disease type II.; ",
"cross_references": "MedGen; C1836522.",
"definition": "Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. ",
"keywords": null
},
{
"identifier": "Osteoarthritis with mild chondrodysplasia.",
"acronym": "OSCDP.",
"accession": "DI-02101",
"synonyms": "Namaqualand hip dysplasia.; NHD.; ",
"cross_references": "MeSH; D010009.",
"definition": "Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. ",
"keywords": null
},
{
"identifier": "Nanophthalmos 2.",
"acronym": "NNO2.",
"accession": "DI-02028",
"synonyms": "Nanophthalmia 2.; Nanophthalmos, autosomal recessive.; ",
"cross_references": "MeSH; D008850.",
"definition": "Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. ",
"keywords": null
},
{
"identifier": "Nanophthalmos 4.",
"acronym": "NNO4.",
"accession": "DI-04209",
"synonyms": "Nanophthalmia 4.; ",
"cross_references": "MeSH; D008850.",
"definition": "A rare disorder of eye development characterized by extreme hyperopia (farsightedness) and small functional eyes. The cornea and lens are normal in size and shape. Hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. ",
"keywords": null
},
{
"identifier": "Spondyloepimetaphyseal dysplasia, Genevieve type.",
"acronym": "SEMDG.",
"accession": "DI-04730",
"synonyms": "NANS deficiency.; SEMD Genevieve type.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disorder characterized by global developmental delay with infantile onset, intellectual disability, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Narcolepsy 7.",
"acronym": "NRCLP7.",
"accession": "DI-03240",
"synonyms": "Narcolepsy-cataplexy syndrome 7.; Narcoleptic syndrome 7.; ",
"cross_references": "MeSH; D009290.",
"definition": "Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed. ",
"keywords": null
},
{
"identifier": "Narcolepsy 1.",
"acronym": "NRCLP1.",
"accession": "DI-02029",
"synonyms": "Narcolepsy-cataplexy syndrome.; Narcoleptic syndrome 1.; ",
"cross_references": "MeSH; D009290.",
"definition": "Neurological disabling sleep disorder, characterized by excessive daytime sleepiness, sleep fragmentation, symptoms of abnormal rapid- eye-movement (REM) sleep, cataplexy, hypnagogic hallucinations, and sleep paralysis. Cataplexy is a sudden loss of muscle tone triggered by emotions, which is the most valuable clinical feature used to diagnose narcolepsy. Human narcolepsy is primarily a sporadically occurring disorder but familial clustering has been observed. ",
"keywords": null
},
{
"identifier": "Neuropathy, ataxia, and retinitis pigmentosa.",
"acronym": "NARP.",
"accession": "DI-02048",
"synonyms": "NARP syndrome.; Neurogenic muscle weakness, ataxia, and retinitis pigmentosa.; ",
"cross_references": "MeSH; D028361.",
"definition": "A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy. ",
"keywords": "KW-0622:Neuropathy.; KW-0682:Retinitis pigmentosa.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Athabaskan brainstem dysgenesis syndrome.",
"acronym": "ABDS.",
"accession": "DI-01193",
"synonyms": "Narvajo brainstem syndrome.; ",
"cross_references": "MeSH; D009421.",
"definition": "Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. ",
"keywords": null
},
{
"identifier": "Keipert syndrome.",
"acronym": "KPTS.",
"accession": "DI-05580",
"synonyms": "Nasodigitoacoustic syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness. ",
"keywords": "KW-0209:Deafness.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1.",
"acronym": "PLOSL1.",
"accession": "DI-02174",
"synonyms": "Nasu-Hakola disease.; NHD.; Presenile dementia with bone cysts.; ",
"cross_references": "MeSH; D001927.",
"definition": "A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life. ",
"keywords": null
},
{
"identifier": "Basal cell nevus syndrome 2.",
"acronym": "BCNS2.",
"accession": "DI-06664",
"synonyms": "NBCCS2.; Nevoid basal cell carcinoma syndrome 2.; ",
"cross_references": "MeSH; D001478.",
"definition": "A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. ",
"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": "Spastic paraplegia 79B, autosomal recessive.",
"acronym": "SPG79B.",
"accession": "DI-03925",
"synonyms": "NDGOA.; Neurodegeneration with optic atrophy, childhood-onset.; ",
"cross_references": "MeSH; D015418.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79B is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
}
]
}