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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=220&ordering=-synonyms",
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"results": [
{
"identifier": "Atrial fibrillation, familial, 13.",
"acronym": "ATFB13.",
"accession": "DI-03855",
"synonyms": null,
"cross_references": "MeSH; D001281.",
"definition": "A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. ",
"keywords": "KW-1020:Atrial fibrillation.; "
},
{
"identifier": "Asthma-related traits 1.",
"acronym": "ASRT1.",
"accession": "DI-02869",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Adams-Oliver syndrome 2.",
"acronym": "AOS2.",
"accession": "DI-03223",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Asthma-related traits 5.",
"acronym": "ASRT5.",
"accession": "DI-02870",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Adams-Oliver syndrome 3.",
"acronym": "AOS3.",
"accession": "DI-03522",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 11.",
"acronym": "ALS11.",
"accession": "DI-00115",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Adams-Oliver syndrome 4.",
"acronym": "AOS4.",
"accession": "DI-03817",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. ",
"keywords": null
},
{
"identifier": "Spondyloepiphyseal dysplasia congenital type.",
"acronym": "SEDC.",
"accession": "DI-02333",
"synonyms": null,
"cross_references": "MedGen; C2745959.",
"definition": "Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. ",
"keywords": null
},
{
"identifier": "Alzheimer disease 9.",
"acronym": "AD9.",
"accession": "DI-04711",
"synonyms": null,
"cross_references": "MeSH; D000544.",
"definition": "A familial, 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": "Alzheimer disease mitochondrial.",
"acronym": "AD-MT.",
"accession": "DI-02761",
"synonyms": null,
"cross_references": "MeSH; D000544.",
"definition": "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": "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.",
"acronym": "ALS12.",
"accession": "DI-02705",
"synonyms": null,
"cross_references": "MeSH; D057180.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Amegakaryocytic thrombocytopenia, congenital, 1.",
"acronym": "CAMT1.",
"accession": "DI-01388",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. ",
"keywords": null
},
{
"identifier": "Amegakaryocytic thrombocytopenia, congenital, 2.",
"acronym": "CAMT2.",
"accession": "DI-06746",
"synonyms": null,
"cross_references": "MeSH; D013921.",
"definition": "A form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. CAMT2 is an autosomal recessive form. Most patients present with thrombocytopenia that progresses to pancytopenia. ",
"keywords": null
},
{
"identifier": "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome.",
"acronym": "PAPPAS.",
"accession": "DI-05747",
"synonyms": null,
"cross_references": "MeSH; D004480.",
"definition": "An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 8.",
"acronym": "ASGD8.",
"accession": "DI-04922",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra- ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": null
},
{
"identifier": "Amyotrophic lateral sclerosis 18.",
"acronym": "ALS18.",
"accession": "DI-03520",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Anterior segment dysgenesis 5.",
"acronym": "ASGD5.",
"accession": "DI-02157",
"synonyms": null,
"cross_references": "MeSH; D005124.",
"definition": "A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1U.",
"acronym": "CMD1U.",
"accession": "DI-02967",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Amyloidosis, hereditary systemic 6.",
"acronym": "AMYLD6.",
"accession": "DI-06896",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Bardet-Biedl syndrome 4.",
"acronym": "BBS4.",
"accession": "DI-00162",
"synonyms": null,
"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.; "
}
]
}