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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=580&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=540&ordering=synonyms",
"results": [
{
"identifier": "Charcot-Marie-Tooth disease, axonal, 2R.",
"acronym": "CMT2R.",
"accession": "DI-03924",
"synonyms": "Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R.; Charcot-Marie-Tooth disease axonal type 2R.; Charcot-Marie-Tooth neuropathy, type 2R.; Charcot-Marie-Tooth neuropathy axonal type 2R.; ",
"cross_references": "MeSH; D002607.",
"definition": "An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. ",
"keywords": "KW-0144:Charcot-Marie-Tooth disease.; KW-0523:Neurodegeneration.; "
},
{
"identifier": "Cataract 18.",
"acronym": "CTRCT18.",
"accession": "DI-03191",
"synonyms": "Autosomal recessive congenital cataract 2.; CATC2.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 36.",
"acronym": "CTRCT36.",
"accession": "DI-03070",
"synonyms": "Autosomal recessive congenital cataract 4.; CATC4.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 38.",
"acronym": "CTRCT38.",
"accession": "DI-03473",
"synonyms": "Autosomal recessive congenital cataract 5.; CATC5.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 1.",
"acronym": "ARCI1.",
"accession": "DI-01230",
"synonyms": "Autosomal recessive congenital ichthyosis 1 with bathing suit distribution.; Autosomal recessive congenital ichthyosis TGM1-related.; Collodion fetus.; Desquamation of newborn.; Ichthyosis congenita.; Ichthyosis congenita II.; ICR2.; Lamellar exfoliation of newborn.; Lamellar ichthyosis 1.; LI1.; Non-erythrodermic ichthyosis.; Self-healing collodion baby.; SHCB.; ",
"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": "Cataract 22, multiple types.",
"acronym": "CTRCT22.",
"accession": "DI-01233",
"synonyms": "Autosomal recessive congenital nuclear cataract 2.; CATCN2.; Nuclear cataract 22.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Cataract 17, multiple types.",
"acronym": "CTRCT17.",
"accession": "DI-01234",
"synonyms": "Autosomal recessive congenital nuclear cataract 3.; Cataract 17, multiple types, with or without microcornea.; CATCN3.; ",
"cross_references": "MeSH; D002386.",
"definition": "An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss.",
"acronym": "DRTA3.",
"accession": "DI-01496",
"synonyms": "Autosomal recessive distal RTA.; Distal renal tubular acidosis with late-onset sensorineural hearing loss.; Distal renal tubular acidosis with preserved hearing.; ",
"cross_references": "MeSH; D000141.",
"definition": "An autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ",
"keywords": null
},
{
"identifier": "Renal tubular acidosis, distal, 4, with hemolytic anemia.",
"acronym": "DRTA4.",
"accession": "DI-01237",
"synonyms": "Autosomal recessive distal RTA with hemolytic anemia.; ",
"cross_references": "MeSH; D000141.",
"definition": "An autosomal recessive disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. ",
"keywords": null
},
{
"identifier": "Segawa syndrome autosomal recessive.",
"acronym": "ARSEGS.",
"accession": "DI-00410",
"synonyms": "Autosomal recessive DOPA-responsive dystonia.; Autosomal recessive infantile parkinsonism.; Dystonia, DOPA-responsive, autosomal recessive.; THD.; Tyrosine hydroxylase deficiency.; ",
"cross_references": "MeSH; D020734.",
"definition": "A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. ",
"keywords": "KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Epidermolysis bullosa dystrophica, autosomal recessive.",
"acronym": "RDEB.",
"accession": "DI-03090",
"synonyms": "Autosomal recessive dystrophic epidermolysis bullosa.; EBR1.; Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive.; Epidermolysis bullosa dystrophica, Hallopeau-Siemens type.; ",
"cross_references": "MeSH; D016108.",
"definition": "A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Parkinson disease 2.",
"acronym": "PARK2.",
"accession": "DI-01238",
"synonyms": "Autosomal recessive early-onset Parkinson disease type 2.; Autosomal recessive juvenile Parkinson disease.; Chromosome 6-linked autosomal recessive parkinsonism.; Early-onset parkinsonism with diurnal fluctuation.; EPDF.; Parkinsonism young adult onset.; PDJ.; ",
"cross_references": "MeSH; D020734.",
"definition": "A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Parkinson disease 6.",
"acronym": "PARK6.",
"accession": "DI-01239",
"synonyms": "Autosomal recessive early-onset Parkinson disease type 6.; Parkinson disease 6 early-onset.; Parkinson disease 6 late-onset susceptibility to.; Parkinson disease autosomal recessive early-onset digenic PINK1/DJ1.; Parkinsonism young adult onset.; ",
"cross_references": "MeSH; D020734.",
"definition": "An early-onset form of Parkinson disease, a neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Immunodeficiency 35.",
"acronym": "IMD35.",
"accession": "DI-02224",
"synonyms": "Autosomal recessive HIES with atypical mycobacteriosis.; Autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis.; TYK2 deficiency.; Tyrosine kinase 2 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE. ",
"keywords": null
},
{
"identifier": "Hyperekplexia 2.",
"acronym": "HKPX2.",
"accession": "DI-03457",
"synonyms": "Autosomal recessive hyperekplexia 2.; ",
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 27A.",
"acronym": "IMD27A.",
"accession": "DI-01964",
"synonyms": "Autosomal recessive IFNGR1 deficiency.; Autosomal recessive immunodeficiency 27A, mycobacteriosis.; Familial disseminated atypical mycobacterial infection.; ",
"cross_references": "MeSH; D009164.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. ",
"keywords": null
},
{
"identifier": "Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects.",
"acronym": "JDSCD.",
"accession": "DI-03269",
"synonyms": "Autosomal recessive Larsen syndrome.; Larsen-like syndrome.; Larsen-like syndrome B3GAT3 type.; ",
"cross_references": "MeSH; D004204.",
"definition": "An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. ",
"keywords": null
},
{
"identifier": "Lethal congenital contracture syndrome 5.",
"acronym": "LCCS5.",
"accession": "DI-03854",
"synonyms": "Autosomal recessive lethal centronuclear myopathy.; ",
"cross_references": "MeSH; D001176.",
"definition": "A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non- progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. ",
"keywords": null
},
{
"identifier": "Frank-Ter Haar syndrome.",
"acronym": "FTHS.",
"accession": "DI-02812",
"synonyms": "Autosomal recessive Melnick-Needles syndrome.; Borrone dermatocardioskeletal syndrome.; Ter Haar syndrome.; ",
"cross_references": "MeSH; D019465.",
"definition": "A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 32B.",
"acronym": "IMD32B.",
"accession": "DI-03811",
"synonyms": "Autosomal recessive monocyte and dendritic cell deficiency.; Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive.; IRF8 deficiency, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis. ",
"keywords": null
}
]
}