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"count": 6723,
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{
"identifier": "Osteopetrosis, autosomal recessive 9.",
"acronym": "OPTB9.",
"accession": "DI-06679",
"synonyms": null,
"cross_references": "MeSH; D010022.",
"definition": "A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB9 is characterized by increased bone density and bone fragility, as well as renal failure. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal recessive 8.",
"acronym": "OPTB8.",
"accession": "DI-03656",
"synonyms": null,
"cross_references": "MeSH; D010022.",
"definition": "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB8 is clinically characterized by dense bones with no distinction between outer and inner plates, due to extensive encroachment of cortical bone into the medullary space, increased head circumference, broad open fontanelle, frontal bossing, and hepatosplenomegaly. Osteoclasts number is low and their bone resorptive capacity is impaired. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Ventriculomegaly and arthrogryposis.",
"acronym": "VENARG.",
"accession": "DI-06216",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "An autosomal recessive disorder with fatal outcome, characterized by prenatal onset of severe features including limb contractures, arthrogryposis, and enlarged brain ventricles that may be associated with hydrocephalus, abnormalities of the corpus callosum, and cerebellar hypoplasia. Some affected fetuses may also have congenital heart disease and hydrops fetalis. Death occurs in utero. ",
"keywords": null
},
{
"identifier": "Panhypopituitarism X-linked.",
"acronym": "PHPX.",
"accession": "DI-02125",
"synonyms": null,
"cross_references": "MedGen; C0342376.",
"definition": "Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. ",
"keywords": null
},
{
"identifier": "Osteopetrosis, autosomal dominant 3.",
"acronym": "OPTA3.",
"accession": "DI-05323",
"synonyms": null,
"cross_references": "MeSH; D010022.",
"definition": "A form of osteopetrosis, a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and an autosomal dominant form occurring in adolescence or adulthood. OPTA3 is characterized by typical features of osteopetrosis such as fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density. Some patients exhibit localized osteosclerosis and generalized osteopenia. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Osteopetrosis, autosomal dominant 1.",
"acronym": "OPTA1.",
"accession": "DI-00884",
"synonyms": null,
"cross_references": "MeSH; D010022.",
"definition": "A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA1 is an autosomal dominant form characterized by generalized osteosclerosis most pronounced in the cranial vault. Patients are often asymptomatic, but some suffer from pain and hearing loss. It appears to be the only type of osteopetrosis not associated with an increased fracture rate. ",
"keywords": "KW-0987:Osteopetrosis.; "
},
{
"identifier": "Ventricular septal defect 1.",
"acronym": "VSD1.",
"accession": "DI-03329",
"synonyms": null,
"cross_references": "MeSH; D006345.",
"definition": "A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. ",
"keywords": null
},
{
"identifier": "Ventricular septal defect 2.",
"acronym": "VSD2.",
"accession": "DI-03330",
"synonyms": null,
"cross_references": "MeSH; D006345.",
"definition": "A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. ",
"keywords": null
},
{
"identifier": "Ventricular septal defect 3.",
"acronym": "VSD3.",
"accession": "DI-03331",
"synonyms": null,
"cross_references": "MeSH; D006345.",
"definition": "A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. ",
"keywords": null
},
{
"identifier": "Osteootohepatoenteric syndrome.",
"acronym": "OOHE.",
"accession": "DI-06143",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive disorder characterized by cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Some patients also display mild developmental delay and intellectual disability. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.",
"acronym": "OCLSBG.",
"accession": "DI-04702",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Ventricular tachycardia, catecholaminergic polymorphic, 3.",
"acronym": "CPVT3.",
"accession": "DI-04918",
"synonyms": null,
"cross_references": "MeSH; D017180.",
"definition": "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation. ",
"keywords": null
},
{
"identifier": "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.",
"acronym": "OCBMD.",
"accession": "DI-05363",
"synonyms": null,
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disorder characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Ventricular tachycardia, catecholaminergic polymorphic, 6.",
"acronym": "CPVT6.",
"accession": "DI-05767",
"synonyms": null,
"cross_references": "MeSH; D017180.",
"definition": "An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT6 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Vertebral anomalies and variable endocrine and T-cell dysfunction.",
"acronym": "VETD.",
"accession": "DI-05435",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by skeletal malformations primarily involving the vertebrae, immunodeficiency, endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency, craniofacial dysmorphism, congenital cardiac anomalies consisting of double-outlet right ventricle, pulmonary valve stenosis and atrial septal defect, and developmental impairments. ",
"keywords": null
},
{
"identifier": "Vertebral hypersegmentation and orofacial anomalies.",
"acronym": "VHO.",
"accession": "DI-05988",
"synonyms": null,
"cross_references": "MeSH; D013122.",
"definition": "An autosomal dominant disease characterized by supernumerary ribs, supernumerary cervical, thoracic and/or lumbar vertebrae, and orofacial anomalies such as cleft lip with or without cleft palate in most patients. ",
"keywords": null
},
{
"identifier": "Ossification of the posterior longitudinal ligament of the spine.",
"acronym": "OPLL.",
"accession": "DI-02820",
"synonyms": null,
"cross_references": "MeSH; D017887.",
"definition": "A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. Patients with OPLL frequently present with a severe myelopathy that can lead to tetraparesis. ",
"keywords": null
},
{
"identifier": "Vertebral, cardiac, renal, and limb defects syndrome 2.",
"acronym": "VCRL2.",
"accession": "DI-05095",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. ",
"keywords": null
},
{
"identifier": "Orthostatic hypotension 2.",
"acronym": "ORTHYP2.",
"accession": "DI-05383",
"synonyms": null,
"cross_references": "MeSH; D007024.",
"definition": "An autosomal recessive disorder characterized by severe orthostatic hypotension apparent from infancy or early childhood, low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. Some patients may also have renal dysfunction and reduced life expectancy. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. ",
"keywords": null
},
{
"identifier": "Vertebral, cardiac, tracheoesophageal, renal, and limb defects.",
"acronym": "VCTRL.",
"accession": "DI-06041",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant disorder with incomplete penetrance and variable expressivity, characterized by cardiac, vertebral, tracheo-esophageal, renal and limb defects. Some patients also exhibit craniofacial abnormalities. ",
"keywords": null
}
]
}