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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1400",
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"results": [
{
"identifier": "Congenital disorder of glycosylation 2Z.",
"acronym": "CDG2Z.",
"accession": "DI-06594",
"synonyms": "Congenital disorder of glycosylation, type IIz.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Z is an autosomal recessive form characterized by a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, CDG2Z is characterized by combined O- and N-linked glycosylation defects. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation with defective fucosylation 1.",
"acronym": "CDGF1.",
"accession": "DI-05266",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation with defective fucosylation 2.",
"acronym": "CDGF2.",
"accession": "DI-05480",
"synonyms": null,
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital erythropoietic porphyria.",
"acronym": "CEP.",
"accession": "DI-01401",
"synonyms": "Gunther disease.; ",
"cross_references": "MedGen; C2718078.",
"definition": "Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. ",
"keywords": null
},
{
"identifier": "Congenital glucose/galactose malabsorption.",
"acronym": "GGM.",
"accession": "DI-01402",
"synonyms": null,
"cross_references": "MedGen; C0268186.",
"definition": "Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. ",
"keywords": null
},
{
"identifier": "Congenital heart defects and ectodermal dysplasia.",
"acronym": "CHDED.",
"accession": "DI-04953",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Congenital heart defects and skeletal malformations syndrome.",
"acronym": "CHDSKM.",
"accession": "DI-05064",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.",
"acronym": "CHDFIDD.",
"accession": "DI-04952",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital heart defects, hamartomas of tongue, and polysyndactyly.",
"acronym": "CHDTHP.",
"accession": "DI-04320",
"synonyms": null,
"cross_references": "MeSH; D013576.",
"definition": "A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 1, X-linked.",
"acronym": "CHTD1.",
"accession": "DI-03598",
"synonyms": "X-linked congenital heart defects nonsyndromic 1.; X-linked congenital heart disease nonsyndromic 1.; ",
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 2.",
"acronym": "CHTD2.",
"accession": "DI-02853",
"synonyms": "Congenital heart defects non-syndromic 2.; ",
"cross_references": "MeSH; D006330.",
"definition": "A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 4.",
"acronym": "CHTD4.",
"accession": "DI-04085",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 5.",
"acronym": "CHTD5.",
"accession": "DI-05221",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 6.",
"acronym": "CHTD6.",
"accession": "DI-03082",
"synonyms": "DTGA3.; Transposition of the great arteries, dextro-looped 3.; ",
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 7.",
"acronym": "CHTD7.",
"accession": "DI-05764",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 8, with or without heterotaxy.",
"acronym": "CHTD8.",
"accession": "DI-06292",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common CHTD8 features include double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies. Vascular anomalies include dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Congenital heart defects, multiple types, 9.",
"acronym": "CHTD9.",
"accession": "DI-06632",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. ",
"keywords": null
},
{
"identifier": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.",
"acronym": "CHILD.",
"accession": "DI-00357",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.",
"acronym": "CHEDDA.",
"accession": "DI-05610",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital insensitivity to pain with anhidrosis.",
"acronym": "CIPA.",
"accession": "DI-01405",
"synonyms": "Familial dysautonomia, type II.; Hereditary sensory and autonomic neuropathy IV.; HSAN4.; HSAN IV.; Neuropathy, congenital sensory, with anhidrosis.; ",
"cross_references": "MedGen; C0020074.",
"definition": "Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self- mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II. ",
"keywords": null
}
]
}