Human Disease List
GET /api/human_diseases/?format=api&offset=1680&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1700&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1660&ordering=-identifier", "results": [ { "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": "Osteofibrous dysplasia.", "acronym": "OSFD.", "accession": "DI-04712", "synonyms": "Bowing of tibia with pseudarthrosis and pectus excavatum.; OFD.; ", "cross_references": "MeSH; D001848.", "definition": "A congenital disorder of osteogenesis characterized by non-neoplastic, radiolucent lesions that affect the cortical bone immediately under the periosteum. It usually manifests as a painless swelling or anterior bowing of the long bones, most commonly the tibia and fibula. ", "keywords": null }, { "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": "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": "Osteoarthritis with mild chondrodysplasia.", "acronym": "OSCDP.", "accession": "DI-02101", "synonyms": "Namaqualand hip dysplasia.; NHD.; ", "cross_references": "MeSH; D010009.", "definition": "Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. ", "keywords": null }, { "identifier": "Osteoarthritis 5.", "acronym": "OS5.", "accession": "DI-02644", "synonyms": "Osteoarthritis of hip.; ", "cross_references": "MeSH; D010003.", "definition": "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ", "keywords": null }, { "identifier": "Osteoarthritis 3.", "acronym": "OS3.", "accession": "DI-02643", "synonyms": "Osteoarthritis of knee/hip.; ", "cross_references": "MeSH; D010003.", "definition": "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ", "keywords": null }, { "identifier": "Osteoarthritis 2.", "acronym": "OS2.", "accession": "DI-02642", "synonyms": "DIPOA.; Hand osteoarthritis.; Heberden nodes.; HOA.; OADIP.; Osteoarthritis of distal interphalangeal joints.; ", "cross_references": "MeSH; D010003.", "definition": "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints. Patients with osteoarthritis may have one, a few, or all of these sites affected. ", "keywords": null }, { "identifier": "Osteoarthritis 1.", "acronym": "OS1.", "accession": "DI-02641", "synonyms": "OA.; Osteoarthritis of hip female-specific.; Osteoarthrosis.; ", "cross_references": "MeSH; D010003.", "definition": "A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. ", "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": "Orthostatic intolerance.", "acronym": "OI.", "accession": "DI-02100", "synonyms": "Irritable heart.; Mitral valve prolapse syndrome.; Neurocirculatory asthenia.; Postural orthostatic tachycardia syndrome.; Postural tachycardia syndrome.; POTS.; Soldiers heart.; ", "cross_references": "MeSH; D054972.", "definition": "An autosomal dominant disorder characterized by lightheadedness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. Plasma norepinephrine concentration is abnormally high. ", "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": "Orthostatic hypotension 1.", "acronym": "ORTHYP1.", "accession": "DI-01502", "synonyms": "DBH deficiency.; Dopamine beta-hydroxylase deficiency.; Noradrenaline deficiency.; Norepinephrine deficiency.; ", "cross_references": "MeSH; D007024.", "definition": "A form of orthostatic hypotension due to congenital dopamine beta- hydroxylase deficiency. 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. ORTHYP1 is an autosomal recessive condition apparent from infancy or early childhood and characterized by low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. ", "keywords": null }, { "identifier": "Orotic aciduria 1.", "acronym": "ORAC1.", "accession": "DI-01730", "synonyms": "OPRT and ODC deficiency.; Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency.; Orotic aciduria.; Oroticaciduria 1.; Orotic aciduria I.; Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency.; UMPS deficiency.; UMP synthase deficiency.; Uridine monophosphate synthase deficiency.; ", "cross_references": "MeSH; D011686.", "definition": "A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. ", "keywords": null }, { "identifier": "Orofaciodigital syndrome 6.", "acronym": "OFD6.", "accession": "DI-04278", "synonyms": "OFDS VI.; Oral-facial-digital syndrome, type VI.; Oral-facial-digital syndrome 6.; Orofaciodigital syndrome VI.; Polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation.; Varadi-PAPP syndrome.; Varadi syndrome.; ", "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. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Orofaciodigital syndrome 5.", "acronym": "OFD5.", "accession": "DI-03935", "synonyms": "OFDS V.; Oral-facial-digital syndrome, type V.; Oral-facial-digital syndrome 5.; Orofaciodigital syndrome Thurston type.; Orofaciodigital syndrome V.; Papillon-Leage and Psaume syndrome.; Polydactyly, postaxial, with median cleft of upper lip.; Thurston syndrome.; ", "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. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Orofaciodigital syndrome 4.", "acronym": "OFD4.", "accession": "DI-03516", "synonyms": "Baraitser-Burn syndrome.; Mohr-Majewski syndrome.; OFDS IV.; OFD syndrome Baraitser-Burn type.; OFD syndrome with tibial defects.; Oral-facial-digital syndrome, type IV.; Oral-facial-digital syndrome 4.; Orofaciodigital syndrome IV.; ", "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. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Orofaciodigital syndrome 20.", "acronym": "OFD20.", "accession": "DI-06848", "synonyms": "Orofaciodigital syndrome XX.; ", "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. OFD20 is an autosomal recessive form characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Orofaciodigital syndrome 2.", "acronym": "OFD2.", "accession": "DI-06854", "synonyms": "Mohr syndrome.; OFDS II.; Oral-facial-digital syndrome II.; Orofaciodigital syndrome II.; ", "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. OFD2 is an autosomal recessive form characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies, maxillary hypoplasia, conductive hearing loss, polydactyly, syndactyly, brachydactyly, and mesomelic lower limb shortening. ", "keywords": "KW-1186:Ciliopathy.; " }, { "identifier": "Orofaciodigital syndrome 19.", "acronym": "OFD19.", "accession": "DI-06536", "synonyms": "OFDS XIX.; Oro-facio-digital syndrome, type XIX.; Orofaciodigital syndrome XIX.; ", "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. OFD19 is an autosomal recessive form characterized by tongue nodules, dental and digital anomalies, narrow high-arched or cleft palate, and retrognathia. Some patients have notching of the upper or lower lip. ", "keywords": "KW-1186:Ciliopathy.; " } ] }