HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3600&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3560&ordering=identifier",
"results": [
{
"identifier": "Krabbe disease.",
"acronym": "KRB.",
"accession": "DI-00647",
"synonyms": "Galactosylceramide beta-galactosidase deficiency.; GALC deficiency.; GCL.; GLD.; Globoid cell leukoencephalopathy.; ",
"cross_references": "MeSH; D007965.",
"definition": "An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Krabbe disease, atypical, due to saposin A deficiency.",
"acronym": "KRBSAPA.",
"accession": "DI-01197",
"synonyms": "Saposin A deficiency.; ",
"cross_references": "MeSH; D007965.",
"definition": "An autosomal recessive disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. ",
"keywords": null
},
{
"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": "Kuru.",
"acronym": "KURU.",
"accession": "DI-01871",
"synonyms": null,
"cross_references": "MedGen; C1855588.",
"definition": "Kuru is transmitted during ritualistic cannibalism, among natives of the New Guinea highlands. Patients exhibit various movement disorders like cerebellar abnormalities, rigidity of the limbs, and clonus. Emotional lability is present, and dementia is conspicuously absent. Death usually occurs from 3 to 12 month after onset. ",
"keywords": null
},
{
"identifier": "Kury-Isidor syndrome.",
"acronym": "KURIS.",
"accession": "DI-06353",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized mainly by mild global developmental delay apparent from infancy or early childhood, and behavioral problems, including autism in most patients. Intellectual development may be mildly delayed, borderline, or even normal. Additional variable systemic features may include poor overall growth, hypotonia, distal skeletal anomalies, seizures, and non- specific dysmorphic facial features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "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 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": "Lacrimo-auriculo-dento-digital syndrome 3.",
"acronym": "LADD3.",
"accession": "DI-06573",
"synonyms": null,
"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": "Lactate dehydrogenase B deficiency.",
"acronym": "LDHBD.",
"accession": "DI-04441",
"synonyms": null,
"cross_references": "MedGen; C3279904.",
"definition": "A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. ",
"keywords": null
},
{
"identifier": "Lamb-Shaffer syndrome.",
"acronym": "LAMSHF.",
"accession": "DI-04646",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Langer mesomelic dysplasia.",
"acronym": "LMD.",
"accession": "DI-01876",
"synonyms": null,
"cross_references": "MedGen; C0432230.",
"definition": "Autosomal recessive rare skeletal dysplasia characterized by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to date. ",
"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": "Larsen syndrome.",
"acronym": "LRS.",
"accession": "DI-01214",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication. ",
"keywords": null
},
{
"identifier": "Late-onset retinal degeneration.",
"acronym": "LORD.",
"accession": "DI-01880",
"synonyms": null,
"cross_references": "MedGen; C1854065.",
"definition": "Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. ",
"keywords": null
},
{
"identifier": "Lateral meningocele syndrome.",
"acronym": "LMNS.",
"accession": "DI-04541",
"synonyms": "Lehman syndrome.; LMS.; ",
"cross_references": "MeSH; D008588.",
"definition": "A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. ",
"keywords": null
},
{
"identifier": "Lathosterolosis.",
"acronym": "LATHOS.",
"accession": "DI-01881",
"synonyms": null,
"cross_references": "MeSH; D043202.",
"definition": "An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. ",
"keywords": null
},
{
"identifier": "Laurence-Moon syndrome.",
"acronym": "LNMS.",
"accession": "DI-04372",
"synonyms": "Laurence-Moon-Biedl Syndrome.; ",
"cross_references": "MeSH; D007849.",
"definition": "An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. ",
"keywords": "KW-0242:Dwarfism.; KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Laurin-Sandrow syndrome.",
"acronym": "LSS.",
"accession": "DI-04275",
"synonyms": "Duplication of fibula and ulna with absence of tibia and radius.; MIP.; Mirror hands and feet with nasal defects.; Mirror-image polydactyly.; Sandrow syndrome.; Segmental Laurin-Sandrow syndrome.; Tetramelic mirror-image polydactyly.; TMIP.; ",
"cross_references": "MeSH; D017880.",
"definition": "A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome). ",
"keywords": null
}
]
}