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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2500&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2460&ordering=synonyms",
"results": [
{
"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": "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": "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": "Ichthyosis, congenital, autosomal recessive 8.",
"acronym": "ARCI8.",
"accession": "DI-03085",
"synonyms": "Lamellar ichthyosis 4.; Late-onset lamellar ichthyosis.; LI4.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 3.",
"acronym": "ARCI3.",
"accession": "DI-03670",
"synonyms": "Lamellar ichthyosis 5.; LI5.; Self-healing collodion baby.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, lamellar, autosomal dominant.",
"acronym": "ADLI.",
"accession": "DI-05901",
"synonyms": "Lamellar ichthyosis, autosomal dominant.; ",
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous.",
"acronym": "JEB2C.",
"accession": "DI-01879",
"synonyms": "Laryngoonychocutaneous syndrome.; LOCS.; LOGIC syndrome.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2C is an autosomal recessive, severe form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. JEB2C manifestations appear in early infancy and include hoarse cry, skin ulceration, nail dystrophy with recurrent loss of toenails and fingernails, and conjunctival scarring. Some patients have amelogenesis imperfecta. Death in childhood is common. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Alzheimer disease 19.",
"acronym": "AD19.",
"accession": "DI-04047",
"synonyms": "Late-onset Alzheimer disease.; ",
"cross_references": "MeSH; D000544.",
"definition": "A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Welander distal myopathy.",
"acronym": "WDM.",
"accession": "DI-03766",
"synonyms": "Late-onset autosomal dominant distal muscular dystrophy.; Swedish distal myopathy.; ",
"cross_references": "MeSH; D049310.",
"definition": "An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement. ",
"keywords": null
},
{
"identifier": "Lymphedema, hereditary, 2.",
"acronym": "LMPH2.",
"accession": "DI-00693",
"synonyms": "Late-onset lymphedema.; Lymphedema, hereditary, II.; Lymphedema, late-onset.; Lymphedema praecox.; Meige disease.; Meige lymphedema.; ",
"cross_references": "MeSH; D008209.",
"definition": "A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections, and physical impairment. ",
"keywords": null
},
{
"identifier": "Biotinidase deficiency.",
"acronym": "BTD deficiency.",
"accession": "DI-00189",
"synonyms": "Late-onset MCD.; Late-onset multiple carboxylase deficiency.; MCD juvenile form.; Multiple carboxylase deficiency, juvenile-onset.; Multiple carboxylase deficiency, late-onset.; ",
"cross_references": "MeSH; D028921.",
"definition": "A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, lattice type 3A.",
"acronym": "CDL3A.",
"accession": "DI-01882",
"synonyms": "Lattice corneal dystrophy type IIIA.; ",
"cross_references": "MeSH; D028226.",
"definition": "A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern. ",
"keywords": "KW-1008:Amyloidosis.; KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Lipomatosis, multiple symmetric, with or without peripheral neuropathy.",
"acronym": "MSL.",
"accession": "DI-06711",
"synonyms": "Launois-Bensaude lipomatosis.; Lipodystrophy, cephalothoracic.; Lipomatosis, familial benign cervical.; Madelung Disease.; ",
"cross_references": "MeSH; D008069.",
"definition": "An autosomal recessive disorder characterized by the growth of unencapsulated, lipomatous masses affecting the upper body, especially the cervical and thoracic regions. Lipomatosis can be disfiguring, and lipoma growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Some patients develop distal muscle weakness and atrophy due to axonal peripheral neuropathy. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome.",
"acronym": "BBS.",
"accession": "DI-03107",
"synonyms": "Laurence-Moon-Bardet-Biedl Syndrome.; ",
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"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": "Autoinflammatory disease, systemic, with vasculitis.",
"acronym": "SAIDV.",
"accession": "DI-06688",
"synonyms": "LAVLI syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by systemic autoinflammation manifesting in the first hours of life with diffuse purpuric skin lesions, fever, hepatosplenomegaly, and increased C- reactive protein. Additional clinical features include periorbital edema, conjunctivitis, urticaria, atopic dermatitis, abdominal pain, and arthralgia. Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. ",
"keywords": null
},
{
"identifier": "Periodic fever, immunodeficiency, and thrombocytopenia syndrome.",
"acronym": "PFITS.",
"accession": "DI-05881",
"synonyms": "Lazy leukocyte syndrome.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immunologic disorder with variable manifestations including early- onset recurrent respiratory infections, stomatitis, cutaneous infections, and neutropenia. ",
"keywords": null
},
{
"identifier": "Lipodystrophy, familial partial, 7.",
"acronym": "FPLD7.",
"accession": "DI-04108",
"synonyms": "LCCNS.; Lipodystrophy, partial, with congenital cataracts and neurodegeneration.; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome.; ",
"cross_references": "MeSH; D052496.",
"definition": "A form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. Affected individuals manifest a gradual loss of subcutaneous adipose tissue in various parts of the body, accompanied by an accumulation of adipose tissue in the face and neck in some cases causing a double chin, fat neck, or cushingoid appearance. FPLD7 is an autosomal dominant form with a variable phenotype. Some patients manifest congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction. ",
"keywords": null
},
{
"identifier": "Lissencephaly 2.",
"acronym": "LIS2.",
"accession": "DI-00671",
"synonyms": "LCH.; Lissencephaly syndrome Norman-Roberts type.; Lissencephaly with cerebellar hypoplasia.; Norman-Roberts syndrome.; ",
"cross_references": "MeSH; D054082.",
"definition": "A classic type lissencephaly associated with ataxia, intellectual disability, seizures and abnormalities of the cerebellum, hippocampus and brainstem. ",
"keywords": "KW-0451:Lissencephaly.; "
},
{
"identifier": "Leber congenital amaurosis 1.",
"acronym": "LCA1.",
"accession": "DI-00629",
"synonyms": "Leber congenital amaurosis type I.; ",
"cross_references": "MeSH; D057130.",
"definition": "A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. ",
"keywords": "KW-0901:Leber congenital amaurosis.; "
}
]
}