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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2480&ordering=synonyms",
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"results": [
{
"identifier": "Spastic paraplegia 15, autosomal recessive.",
"acronym": "SPG15.",
"accession": "DI-01046",
"synonyms": "Kjellin syndrome.; Spastic paraplegia and retinal degeneration.; ",
"cross_references": "MeSH; D015419.",
"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. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or intellectual disability, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Optic atrophy 1.",
"acronym": "OPA1.",
"accession": "DI-02097",
"synonyms": "Kjer-type optic atrophy.; OAK.; Optic atrophy juvenile.; Optic atrophy Kjer type.; ",
"cross_references": "MeSH; D029241.",
"definition": "A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density. ",
"keywords": null
},
{
"identifier": "Waardenburg syndrome 3.",
"acronym": "WS3.",
"accession": "DI-01138",
"synonyms": "Klein-Waardenburg syndrome.; Waardenburg syndrome with upper limb anomalies.; White forelock with malformations.; ",
"cross_references": "MeSH; D014849.",
"definition": "WS3 is an autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, dystopia canthorum and limb anomalies such as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, syndactylies. ",
"keywords": "KW-0897:Waardenburg syndrome.; "
},
{
"identifier": "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.",
"acronym": "KLICK.",
"accession": "DI-02805",
"synonyms": "KLICK genodermatosis.; KLICK syndrome.; ",
"cross_references": "MeSH; D007642.",
"definition": "A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. ",
"keywords": "KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Kniest dysplasia.",
"acronym": "KD.",
"accession": "DI-01867",
"synonyms": "Kniest syndrome.; KS.; Metatropic dwarfism type II.; ",
"cross_references": "MedGen; C0265279.",
"definition": "Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. ",
"keywords": null
},
{
"identifier": "Knobloch syndrome 1.",
"acronym": "KNO1.",
"accession": "DI-01868",
"synonyms": "KNO.; Retinal detachment and occipital encephalocele.; ",
"cross_references": "MeSH; D012163.",
"definition": "A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. ",
"keywords": null
},
{
"identifier": "Bart-Pumphrey syndrome.",
"acronym": "BAPS.",
"accession": "DI-00172",
"synonyms": "Knuckle pads, leukonychia, and sensorineural deafness.; ",
"cross_references": "MeSH; D007645.",
"definition": "An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. ",
"keywords": "KW-0209:Deafness.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Kohlschuetter-Toenz syndrome.",
"acronym": "KTZS.",
"accession": "DI-03440",
"synonyms": "Kohlschutter-Tonz syndrome.; ",
"cross_references": "MeSH; D004827.",
"definition": "An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound intellectual disability, never acquire speech, and become bedridden early in life. ",
"keywords": "KW-0887:Epilepsy.; KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Den Hoed-de Boer-Voisin syndrome.",
"acronym": "DHDBV.",
"accession": "DI-06058",
"synonyms": "Kohlschutter-Tonz syndrome-like.; KTZSL.; ",
"cross_references": "MeSH; D065886.",
"definition": "A disorder characterized by global developmental delay, moderately to severely impaired intellectual development, poor or absent speech, delayed motor skills, and early-onset epilepsy in many patients. Most affected individuals have feeding difficulties, poor overall growth, dysmorphic facial features, and significant dental anomalies resembling amelogenesis imperfecta. More variable features include visual defects, behavioral abnormalities, and non-specific involvement of other organ systems. DHDBV transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance and variable expressivity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Peters-plus syndrome.",
"acronym": "PTRPLS.",
"accession": "DI-02158",
"synonyms": "Krause-Kivlin syndrome.; Peters anomaly with short-limb dwarfism.; ",
"cross_references": "MeSH; D017880.",
"definition": "An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Craniosynostosis and dental anomalies.",
"acronym": "CRSDA.",
"accession": "DI-03259",
"synonyms": "Kreiborg-Pakistani syndrome.; ",
"cross_references": "MeSH; D003398.",
"definition": "A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly. ",
"keywords": "KW-0989:Craniosynostosis.; "
},
{
"identifier": "Kufor-Rakeb syndrome.",
"acronym": "KRS.",
"accession": "DI-01870",
"synonyms": "KRPPD.; Pallidopyramidal degeneration with supranuclear upgaze paresis and dementia.; PARK9.; Parkinson disease 9.; Parkinson disease autosomal recessive 9.; ",
"cross_references": "MeSH; D020734.",
"definition": "A rare form of autosomal recessive juvenile or early-onset, levodopa- responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. ",
"keywords": "KW-0908:Parkinsonism.; "
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant.",
"acronym": "CLN4B.",
"accession": "DI-03226",
"synonyms": "Kufs disease autosomal dominant.; Neuronal ceroid lipofuscinosis Parry type.; ",
"cross_references": "MeSH; D009472.",
"definition": "An adult-onset neuronal ceroid lipofuscinosis. 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. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Spinal muscular atrophy 3.",
"acronym": "SMA3.",
"accession": "DI-01057",
"synonyms": "Kugelberg-Welander syndrome.; KWS.; SMA III.; Spinal muscular atrophy mild childhood and adolescent form.; Spinal muscular atrophy type III.; Wohlfart-Kugelberg-Welander disease.; ",
"cross_references": "MeSH; D014897.",
"definition": "An autosomal recessive form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Onset is after 18 months. Patients develop ability to stand and walk and survive into adulthood. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "L-2-hydroxyglutaric aciduria.",
"acronym": "L2HGA.",
"accession": "DI-00626",
"synonyms": "L-2-hydroxyglutaric acidemia.; ",
"cross_references": "MeSH; D008661.",
"definition": "A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe intellectual disability. Diagnosis is based on the presence of an excess of L-2- hydroxyglutaric acid in urine, blood and cerebrospinal fluid. ",
"keywords": null
},
{
"identifier": "Congenital arthrogryposis with anterior horn cell disease.",
"acronym": "CAAHD.",
"accession": "DI-00643",
"synonyms": "LAAHD.; Lethal arthrogryposis with anterior horn cell disease.; ",
"cross_references": "MeSH; D016472.",
"definition": "An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe. ",
"keywords": null
},
{
"identifier": "Lacrimal duct defect.",
"acronym": "LCDD.",
"accession": "DI-04319",
"synonyms": "Lacrimal duct obstruction.; Nasolacrimal duct obstruction.; ",
"cross_references": "MeSH; D007767.",
"definition": "A condition resulting in the imbalance between tear production and tear drainage. Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis. LCDD is caused by failure of the nasolacrimal duct to open into the inferior meatus. ",
"keywords": null
},
{
"identifier": "Lacrimo-auriculo-dento-digital syndrome 2.",
"acronym": "LADD2.",
"accession": "DI-06572",
"synonyms": "Lacrimoauriculodentodigital syndrome 2.; LADD syndrome 2.; ",
"cross_references": "MeSH; D034381.",
"definition": "A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0953:Lacrimo-auriculo-dento-digital syndrome.; "
},
{
"identifier": "Lacrimo-auriculo-dento-digital syndrome 1.",
"acronym": "LADD1.",
"accession": "DI-00627",
"synonyms": "Lacrimoauriculodentodigital syndrome.; LADD syndrome.; LADD syndrome 1.; Levy-Hollister syndrome.; ",
"cross_references": "MeSH; D034381.",
"definition": "A form of lacrimo-auriculo-dento-digital syndrome, an autosomal dominant disease characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. ",
"keywords": "KW-0038:Ectodermal dysplasia.; KW-0953:Lacrimo-auriculo-dento-digital syndrome.; "
},
{
"identifier": "Pyruvate dehydrogenase E3-binding protein deficiency.",
"acronym": "PDHXD.",
"accession": "DI-01872",
"synonyms": "Lactic acidemia due to defect in lipoyl-containing component X of the pyruvate dehydrogenase complex.; Lacticacidemia due to PDX1 deficiency.; ",
"cross_references": "MeSH; D000140.",
"definition": "A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation. ",
"keywords": null
}
]
}