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=2340&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2300&ordering=synonyms",
"results": [
{
"identifier": "Ciliary dyskinesia, primary, 2.",
"acronym": "CILD2.",
"accession": "DI-03362",
"synonyms": "ICS2.; Immotile cilia syndrome 2.; Primary ciliary dyskinesia 2 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 5.",
"acronym": "CILD5.",
"accession": "DI-03560",
"synonyms": "ICS5.; Immotile cilia syndrome 5.; Primary ciliary dyskinesia 5 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 6.",
"acronym": "CILD6.",
"accession": "DI-00931",
"synonyms": "ICS6.; Immotile cilia syndrome 6.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 7.",
"acronym": "CILD7.",
"accession": "DI-00932",
"synonyms": "ICS7.; Immotile cilia syndrome 7.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 9.",
"acronym": "CILD9.",
"accession": "DI-00933",
"synonyms": "ICS9.; Immotile cilia syndrome 9.; Primary ciliary dyskinesia 9 with or without situs inversus.; ",
"cross_references": "MeSH; D007619.",
"definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
"keywords": "KW-1012:Kartagener syndrome.; "
},
{
"identifier": "Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia.",
"acronym": "LDMLS1.",
"accession": "DI-04883",
"synonyms": "IDDCA.; Intellectual developmental disorder with cardiac arrhythmia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Diets-Jongmans syndrome.",
"acronym": "DIJOS.",
"accession": "DI-05814",
"synonyms": "IDDFD.; Intellectual developmental disorder with distinctive facial dysmorphism.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by varying degrees of intellectual disability, developmental delay, short stature, and characteristic facial features such as a wide mouth, a pointed chin, long ears and a low columella. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Jansen-de Vries syndrome.",
"acronym": "JDVS.",
"accession": "DI-04996",
"synonyms": "IDDGIP.; Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. ",
"keywords": "KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Vulto-van Silfout-de Vries syndrome.",
"acronym": "VSVS.",
"accession": "DI-04122",
"synonyms": "IDDISBAS.; Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures.; MRD24.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by intellectual disability, poor speech, motor delay, and autistic features. Most patients have additional non-specific features, including hypotonia and gait abnormalities, seizures, which may be refractory, high pain threshold, and sleep disturbances. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Wolcott-Rallison syndrome.",
"acronym": "WRS.",
"accession": "DI-01149",
"synonyms": "IDDM-MED syndrome.; MED-IDDM syndrome.; Multiple epiphyseal dysplasia with early-onset diabetes mellitus.; ",
"cross_references": "MeSH; D010009.",
"definition": "A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, intellectual disability and cardiovascular abnormalities. ",
"keywords": null
},
{
"identifier": "Snijders Blok-Campeau syndrome.",
"acronym": "SNIBCPS.",
"accession": "DI-05430",
"synonyms": "IDDMSF.; Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering. Additional clinical features are macrocephaly, characteristic facial features such as prominent forehead and hypertelorism, hypotonia, and joint laxity. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Myelofibrosis.",
"acronym": "MYELOF.",
"accession": "DI-02746",
"synonyms": "Idiopathic myelofibrosis.; Myelosclerosis.; ",
"cross_references": "MeSH; D055728.",
"definition": "A disorder characterized by replacement of the bone marrow by fibrous tissue, occurring in association with a myeloproliferative disorder. Clinical manifestations may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. ",
"keywords": null
},
{
"identifier": "Parkinson disease.",
"acronym": "PARK.",
"accession": "DI-02134",
"synonyms": "Idiopathic Parkinson disease.; Late onset Parkinson disease.; Lewy body Parkinson disease.; Paralysis Agitans.; PD.; Primary Parkinsonism.; ",
"cross_references": "MeSH; D010300.",
"definition": "A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0907:Parkinson disease.; KW-0908:Parkinsonism.; "
},
{
"identifier": "Diarrhea 11, malabsorptive, congenital.",
"acronym": "DIAR11.",
"accession": "DI-05692",
"synonyms": "IDIS.; Intractable diarrhea of infancy syndrome.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. DIAR11 is characterized by onset of intractable diarrhea within the first few weeks of life. ",
"keywords": null
},
{
"identifier": "Spastic paraplegia 18B, autosomal recessive.",
"acronym": "SPG18B.",
"accession": "DI-03411",
"synonyms": "IDMDC.; Intellectual disability motor dysfunction and joint contractures.; ",
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG18B is a severe form with onset in early childhood. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
},
{
"identifier": "Immunodeficiency 106, susceptibility to viral infections.",
"acronym": "IMD106.",
"accession": "DI-06465",
"synonyms": "IFNAR1 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. IMD106 affected individuals may demonstrate adverse reactions to vaccination with live attenuated viral vaccines, most notably measles, mumps and rubella (MMR) and yellow fever vaccines. A subset of IMD106 patients develop severe reactions, including excessive hyperinflammatory response, encephalopathy, acute respiratory distress syndrome, and multiorgan failure. IMD106 may also predispose to severe respiratory infection with SARS-CoV-2. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 69.",
"acronym": "IMD69.",
"accession": "DI-05886",
"synonyms": "IFNG deficiency, autosomal recessive.; Immunodeficiency 69, mycobacteriosis, autosomal recessive.; ",
"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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 27B.",
"acronym": "IMD27B.",
"accession": "DI-04225",
"synonyms": "IFNGR1 deficiency, autosomal dominant.; Immunodeficiency 27B, mycobacteriosis, autosomal dominant.; ",
"cross_references": "MeSH; D009165.",
"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. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 28.",
"acronym": "IMD28.",
"accession": "DI-04221",
"synonyms": "IFNGR2 deficiency.; Immunodeficiency 28, mycobacteriosis, autosomal recessive.; ",
"cross_references": "MeSH; D009165.",
"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. IMD28 is an autosomal recessive disease that manifests early in life, with severe, often fatal, infection. ",
"keywords": null
},
{
"identifier": "Anterior segment dysgenesis 4.",
"acronym": "ASGD4.",
"accession": "DI-01833",
"synonyms": "IGDS2.; IHGA.; IRID2.; Iridogoniodysgenesis syndrome 2.; Iridogoniodysgenesis type 2.; Iris hypoplasia with early-onset glaucoma, autosomal dominant.; ",
"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. ASGD4 is an autosomal dominant disease. ",
"keywords": null
}
]
}