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=3460&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3420&ordering=identifier",
"results": [
{
"identifier": "Intellectual disability-hypotonic facies syndrome, X-linked, 1.",
"acronym": "MRXHF1.",
"accession": "DI-00723",
"synonyms": "Carpenter-Waziri syndrome.; Chudley-Lowry syndrome.; CWS.; Holmes-Gang syndrome.; Intellectual disability X-linked with growth retardation deafness and microgenitalism.; JMS.; Juberg-Marsidi syndrome.; SFM1.; SFMS.; Smith-Fineman-Myers syndrome 1.; XLMR-hypotonic facies syndrome.; ",
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 features include severe intellectual disability, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Interstitial lung and liver disease.",
"acronym": "ILLD.",
"accession": "DI-03921",
"synonyms": "ILFS2.; Infantile liver failure syndrome 2.; Pulmonary alveolar proteinosis, Reunion island.; ",
"cross_references": "MeSH; D017093.",
"definition": "An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition. ",
"keywords": null
},
{
"identifier": "Interstitial lung disease 1.",
"acronym": "ILD1.",
"accession": "DI-06268",
"synonyms": null,
"cross_references": "MeSH; D054990.",
"definition": "A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD1 inheritance can be autosomal dominant with incomplete penetrance, and autosomal recessive. ",
"keywords": null
},
{
"identifier": "Interstitial lung disease 2.",
"acronym": "ILD2.",
"accession": "DI-02670",
"synonyms": "Fibrocystic pulmonary dysplasia.; Fibrosing alveolitis cryptogenic.; Hamman-Rich disease.; Idiopathic pulmonary fibrosis familial.; Interstitial pneumonitis usual.; IPF.; Pulmonary fibrosis, idiopathic.; UIP.; ",
"cross_references": "MeSH; D054990.",
"definition": "A form of interstitial lung disease, a heterogeneous group of diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The disease spectrum ranges from idiopathic interstitial pneumonia or pneumonitis to idiopathic pulmonary fibrosis, that is associated with an increased risk of developing lung cancer. Clinical features of interstitial lung disease include dyspnea, clubbing of the fingers, and restrictive lung capacity. ILD2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Interstitial nephritis, karyomegalic.",
"acronym": "KMIN.",
"accession": "DI-03532",
"synonyms": "Karyomegalic tubulointerstitial nephritis.; KTN.; ",
"cross_references": "MeSH; D009395.",
"definition": "A rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life. ",
"keywords": null
},
{
"identifier": "Intervertebral disc disease.",
"acronym": "IDD.",
"accession": "DI-01829",
"synonyms": "Intervertebral disk disease.; LDD.; LDH.; Lumbar disc degeneration.; Lumbar disc disease.; Lumbar disc herniation.; ",
"cross_references": "MeSH; D055959.",
"definition": "A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. ",
"keywords": null
},
{
"identifier": "Intestinal carcinoid tumor.",
"acronym": "ICT.",
"accession": "DI-02614",
"synonyms": "Argentaffinoma.; Carcinoid.; Gastrointestinal carcinoid tumor.; ",
"cross_references": "MeSH; D002276.",
"definition": "A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract. ",
"keywords": null
},
{
"identifier": "Intestinal dysmotility syndrome.",
"acronym": "IDMTS.",
"accession": "DI-06508",
"synonyms": null,
"cross_references": "MeSH; D007410.",
"definition": "An autosomal recessive disorder characterized by impaired intestinal peristalsis, recurrent episodes of haemorrhagic diarrhea, and distention of intestinal loops. Intestinal and hepatic portal venous gas, dysmorphic features, and developmental delay may also be present. ",
"keywords": null
},
{
"identifier": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.",
"acronym": "IPOX.",
"accession": "DI-02438",
"synonyms": "CIIP.; CIIPX.; CIIP X-linked.; Congenital idiopathic intestinal pseudoobstruction.; ",
"cross_references": "MeSH; D007418.",
"definition": "A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. ",
"keywords": null
},
{
"identifier": "Intracardiac myxoma.",
"acronym": "INTMYX.",
"accession": "DI-01830",
"synonyms": null,
"cross_references": "MedGen; C2931787.",
"definition": "Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Intracerebral hemorrhage.",
"acronym": "ICH.",
"accession": "DI-03406",
"synonyms": "Hemorrhagic stroke.; ",
"cross_references": "MeSH; D002543.",
"definition": "A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. ",
"keywords": null
},
{
"identifier": "Intractable childhood epilepsy with generalized tonic-clonic seizures.",
"acronym": "ICEGTC.",
"accession": "DI-00599",
"synonyms": null,
"cross_references": "MeSH; D004831.",
"definition": "A disorder characterized by generalized tonic-clonic seizures beginning usually in infancy and induced by fever. Seizures are associated with subsequent mental decline, as well as ataxia or hypotonia. ICEGTC is similar to SMEI, except for the absence of myoclonic seizures. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.",
"acronym": "IMAGE.",
"accession": "DI-03499",
"synonyms": "IMAGE syndrome.; ",
"cross_references": "MeSH; D005317.",
"definition": "A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. ",
"keywords": null
},
{
"identifier": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.",
"acronym": "IMAGEI.",
"accession": "DI-05489",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth failure, metaphyseal dysplasia, adrenal hypoplasia congenita, growth hormone deficiency, genital anomalies, and immunodeficiency resulting in increased infections. ",
"keywords": null
},
{
"identifier": "Iron overload.",
"acronym": "IO.",
"accession": "DI-06548",
"synonyms": null,
"cross_references": "MeSH; D019190.",
"definition": "A disorder of iron homeostasis with incomplete and age-dependent penetrance. It is characterized by adult onset of increased hepatic and systemic iron levels, increased serum ferritin, normal or high transferrin saturation, and inappropriately low or normal levels of hepcidin. The severity of the phenotype depends on age, sex, as well as additional genetic or acquired factors including alcohol consumption and increased body weight. ",
"keywords": null
},
{
"identifier": "Iron-refractory iron deficiency anemia.",
"acronym": "IRIDA.",
"accession": "DI-01834",
"synonyms": "Hereditary iron-handling disorder.; Hypochromic microcytic anemia with defect in iron metabolism.; Pseudo-iron-deficiency anemia.; ",
"cross_references": "MedGen; C0085576.",
"definition": "Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron. ",
"keywords": null
},
{
"identifier": "Ischemic stroke.",
"acronym": "ISCHSTR.",
"accession": "DI-01835",
"synonyms": "Cerebral infarction.; Cerebrovascular accident.; ",
"cross_references": "MedGen; C0948008.",
"definition": "A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. ",
"keywords": null
},
{
"identifier": "Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.",
"acronym": "ICPPS.",
"accession": "DI-02312",
"synonyms": "Coxopodopatellar syndrome.; Ischiopatellar dysplasia.; Patella aplasia, coxa vara, and tarsal synostosis.; Scott-Taor syndrome.; Small patella syndrome.; SPS.; ",
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. ",
"keywords": null
},
{
"identifier": "Isobutyryl-CoA dehydrogenase deficiency.",
"acronym": "IBDD.",
"accession": "DI-01836",
"synonyms": "ACAD8 deficiency.; Deficiency of acyl-CoA dehydrogenase family member 8.; IBD deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. ",
"keywords": null
},
{
"identifier": "Isovaleric acidemia.",
"acronym": "IVA.",
"accession": "DI-01845",
"synonyms": "Isovaleric acid CoA dehydrogenase deficiency.; IVD deficiency.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. ",
"keywords": null
}
]
}