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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4260&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4220&ordering=-synonyms",
"results": [
{
"identifier": "Epidermolysis bullosa, lethal acantholytic.",
"acronym": "EBLA.",
"accession": "DI-00459",
"synonyms": "LAEB.; Lethal acantholytic epidermolysis bullosa.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia.",
"acronym": "LDMLS2.",
"accession": "DI-04882",
"synonyms": "LADCI.; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia.; Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by speech impairment and variable expressivity of attention deficit- hyperactivity disorder. Some patients manifest developmental and motor delay, hypotonia, and sinus-node dysfunction. ",
"keywords": null
},
{
"identifier": "Pyruvate dehydrogenase E2 deficiency.",
"acronym": "PDHE2 deficiency.",
"accession": "DI-02239",
"synonyms": "Lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex.; ",
"cross_references": "MedGen; C1855565.",
"definition": "Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. ",
"keywords": null
},
{
"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
},
{
"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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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": "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.; "
}
]
}