{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4240&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4200&ordering=-synonyms","results":[{"identifier":"Leber hereditary optic neuropathy.","acronym":"LHON.","accession":"DI-00640","synonyms":"Leber optic atrophy.; LOA.; Optic atrophy Leber type.; ","cross_references":"MeSH; D029242.","definition":"A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. ","keywords":"KW-0429:Leber hereditary optic neuropathy.; "},{"identifier":"Leber hereditary optic neuropathy, modifier.","acronym":"LOAM.","accession":"DI-06012","synonyms":"Leber hereditary optic neuropathy, modifier of.; Leber hereditary optic neuropathy susceptibility.; LOAS.; Modifier of Leber hereditary optic neuropathy.; ","cross_references":"MeSH; D029242.","definition":"A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Leber hereditary optic neuropathy is maternally inherited in most case and results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. Mutations in modifier genes can influence disease expression. LOAM exhibits increased penetrance and earlier age of onset compared to Leber optic atrophy caused by MTND4 primary mutations, due to the action of mutations in PRICKLE3 as a modifier gene. ","keywords":"KW-0429:Leber hereditary optic neuropathy.; "},{"identifier":"Leber congenital amaurosis 2.","acronym":"LCA2.","accession":"DI-00630","synonyms":"Leber congenital amaurosis type II.; ","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.; "},{"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.; "},{"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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":"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, 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.; "}]}