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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3040&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3000&ordering=synonyms",
"results": [
{
"identifier": "Orofaciodigital syndrome 15.",
"acronym": "OFD15.",
"accession": "DI-04826",
"synonyms": "OFDS XV.; Oro-facio-digital syndrome, XV.; Orofaciodigital syndrome XV.; ",
"cross_references": "MeSH; D009958.",
"definition": "A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "N-terminal acetyltransferase deficiency.",
"acronym": "NATD.",
"accession": "DI-03266",
"synonyms": "Ogden syndrome.; OGDNS.; ",
"cross_references": "MeSH; D001848.",
"definition": "An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia. ",
"keywords": null
},
{
"identifier": "Night blindness, congenital stationary, Oguchi type 1.",
"acronym": "CSNBO1.",
"accession": "DI-00374",
"synonyms": "Oguchi disease 1.; Oguchi disease-1.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Night blindness, congenital stationary, Oguchi type 2.",
"acronym": "CSNBO2.",
"accession": "DI-02770",
"synonyms": "Oguchi disease 2.; Oguchi disease-2.; ",
"cross_references": "MeSH; D009755.",
"definition": "A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation. ",
"keywords": "KW-1014:Congenital stationary night blindness.; "
},
{
"identifier": "Ohdo syndrome, X-linked.",
"acronym": "OHDOX.",
"accession": "DI-03741",
"synonyms": "Ohdo syndrome Maat-Kievit-Brunner type.; Ohdo syndrome MKB type.; ",
"cross_references": "MeSH; D016569.",
"definition": "A syndrome characterized by intellectual disability, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Osteogenesis imperfecta 7.",
"acronym": "OI7.",
"accession": "DI-02104",
"synonyms": "OI2B.; OI-IIB.; OI type IIB.; OI type VII.; OI-VII.; Osteogenesis imperfecta perinatal lethal autosomal recessive.; Osteogenesis imperfecta type II autosomal recessive.; Osteogenesis imperfecta type IIB.; Osteogenesis imperfecta type VII.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI7 is an autosomal recessive, severe form. Multiple fractures are present at birth and patients have short stature, short humeri and femora, coxa vara, and white sclera. Dentinogenesis imperfecta is absent. Death can occur in the perinatal period due to secondary respiratory insufficiency. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 9.",
"acronym": "OI9.",
"accession": "DI-02542",
"synonyms": "OI-IX.; OI type IX.; Osteogenesis imperfecta Sillence type II/III without abnormality of type I collagen.; Osteogenesis imperfecta type IX.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 3.",
"acronym": "OI3.",
"accession": "DI-02108",
"synonyms": "OI, type III.; OI-III.; Osteogenesis imperfecta type III.; Progressively deforming osteogenesis imperfecta with normal sclerae.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 2.",
"acronym": "OI2.",
"accession": "DI-02107",
"synonyms": "OI, type II.; OIC.; OI-II.; OI-IIA.; OI type IIA.; Osteogenesis imperfecta congenita.; Osteogenesis imperfecta congenita perinatal lethal form.; Osteogenesis imperfecta type IIA.; Osteogenesis imperfecta type II autosomal dominant.; Vrolik type of osteogenesis imperfecta.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 1.",
"acronym": "OI1.",
"accession": "DI-02106",
"synonyms": "OI, type I.; OI-I.; Osteogenesis imperfecta tarda.; Osteogenesis imperfecta type I.; Osteogenesis imperfecta with blue sclerae.; Osteopenic non-fracture syndrome.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by bone low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 4.",
"acronym": "OI4.",
"accession": "DI-02103",
"synonyms": "OI, type IV.; OI-IV.; Osteogenesis imperfecta type IV.; Osteogenesis imperfecta with normal sclerae.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 8.",
"acronym": "OI8.",
"accession": "DI-02105",
"synonyms": "OI type VIII.; OI-VIII.; Osteogenesis imperfecta type VIII.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 6.",
"acronym": "OI6.",
"accession": "DI-02725",
"synonyms": "OI type VI.; OI-VI.; Osteogenesis imperfecta type VI.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI6 is a severe, autosomal recessive form compatible with OI type III in the Sillence classification. ",
"keywords": "KW-0242:Dwarfism.; KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 5.",
"acronym": "OI5.",
"accession": "DI-03563",
"synonyms": "OI type V.; OI-V.; Osteogenesis imperfecta type V.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 13.",
"acronym": "OI13.",
"accession": "DI-03557",
"synonyms": "OI type XIII.; OI-XIII.; Osteogenesis imperfecta type XIII.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 12.",
"acronym": "OI12.",
"accession": "DI-03173",
"synonyms": "OI type XII.; OI-XII.; Osteogenesis imperfecta Sillence type III.; Osteogenesis imperfecta type XII.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 11.",
"acronym": "OI11.",
"accession": "DI-03069",
"synonyms": "OI type XI.; OI-XI.; Osteogenesis imperfecta type XI.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 14.",
"acronym": "OI14.",
"accession": "DI-03686",
"synonyms": "OI type XIV.; OI-XIV.; Osteogenesis imperfecta type XIV.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 10.",
"acronym": "OI10.",
"accession": "DI-03068",
"synonyms": "OI type X.; OI-X.; Osteogenesis imperfecta type X.; ",
"cross_references": "MeSH; D010013.",
"definition": "A form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
},
{
"identifier": "Osteogenesis imperfecta 15.",
"acronym": "OI15.",
"accession": "DI-03754",
"synonyms": "OI type XV.; OI-XV.; Osteogenesis imperfecta type XV.; ",
"cross_references": "MeSH; D010013.",
"definition": "An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI15 is characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclerae. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients. ",
"keywords": "KW-1065:Osteogenesis imperfecta.; "
}
]
}