Human Disease List
GET /api/human_diseases/?format=api&offset=5180&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5200&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5160&ordering=-identifier", "results": [ { "identifier": "Crigler-Najjar syndrome 2.", "acronym": "CN2.", "accession": "DI-01450", "synonyms": "CN-II.; Crigler-Najjar syndrome type II.; ", "cross_references": "MedGen; C2931132.", "definition": "Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Crigler-Najjar syndrome 1.", "acronym": "CN1.", "accession": "DI-01449", "synonyms": "CN-I.; Crigler-Najjar syndrome type I.; ", "cross_references": "MedGen; C0010324.", "definition": "Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Creutzfeldt-Jakob disease.", "acronym": "CJD.", "accession": "DI-01448", "synonyms": null, "cross_references": "MedGen; C1969957.", "definition": "Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness. ", "keywords": null }, { "identifier": "Craniotubular dysplasia, Ikegawa type.", "acronym": "CTDI.", "accession": "DI-06325", "synonyms": null, "cross_references": "MeSH; D001847.", "definition": "An autosomal recessive, sclerosing bone disorder characterized by proportional or short-limbed short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Craniosynostosis and dental anomalies.", "acronym": "CRSDA.", "accession": "DI-03259", "synonyms": "Kreiborg-Pakistani syndrome.; ", "cross_references": "MeSH; D003398.", "definition": "A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 7.", "acronym": "CRS7.", "accession": "DI-04994", "synonyms": "Craniosynostosis 7, digenic.; ", "cross_references": "MeSH; D003398.", "definition": "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 6.", "acronym": "CRS6.", "accession": "DI-04561", "synonyms": null, "cross_references": "MeSH; D003398.", "definition": "A form of craniosynostosis, a primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 5.", "acronym": "CRS5.", "accession": "DI-03953", "synonyms": null, "cross_references": "MeSH; D003398.", "definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 4.", "acronym": "CRS4.", "accession": "DI-03809", "synonyms": null, "cross_references": "MeSH; D003398.", "definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 3.", "acronym": "CRS3.", "accession": "DI-03808", "synonyms": null, "cross_references": "MeSH; D003398.", "definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 2.", "acronym": "CRS2.", "accession": "DI-00382", "synonyms": "Craniosynostosis Boston type.; Craniosynostosis Boston-type.; Craniosynostosis Warman type.; Craniosynostosis Warman-type.; CSB.; Warman-Mulliken-Hayward syndrome.; ", "cross_references": "MeSH; D003398.", "definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniosynostosis 1.", "acronym": "CRS1.", "accession": "DI-01447", "synonyms": "Craniostenosis.; CRS.; ", "cross_references": "MeSH; D003398.", "definition": "A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Cranioosteoarthropathy.", "acronym": "COA.", "accession": "DI-01446", "synonyms": null, "cross_references": "MeSH; D010004.", "definition": "A form of osteoarthropathy characterized by swelling of the joints, digital clubbing, hyperhidrosis, delayed closure of the fontanels, periostosis, and variable patent ductus arteriosus. Pachydermia is not a prominent feature. ", "keywords": null }, { "identifier": "Craniometaphyseal dysplasia, autosomal recessive.", "acronym": "CMDR.", "accession": "DI-03897", "synonyms": null, "cross_references": "MeSH; D019465.", "definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ", "keywords": null }, { "identifier": "Craniometaphyseal dysplasia, autosomal dominant.", "acronym": "CMDD.", "accession": "DI-01445", "synonyms": "CMDJ.; Craniometaphyseal dysplasia Jackson type.; ", "cross_references": "MeSH; D019465.", "definition": "An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. ", "keywords": null }, { "identifier": "Craniometadiaphyseal osteosclerosis with hip dysplasia.", "acronym": "CMDOH.", "accession": "DI-06785", "synonyms": null, "cross_references": "MeSH; D010026.", "definition": "An autosomal recessive skeletal dysplasia characterized by macrocephaly, cranial hyperostosis, and vertebral endplate sclerosis. Other frequent findings include hip dysplasia, heart malformations, variable developmental delay, and hematological anomalies. Bone biopsy shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, leading to coarse trabeculae. ", "keywords": null }, { "identifier": "Craniolenticulosutural dysplasia.", "acronym": "CLSD.", "accession": "DI-01444", "synonyms": "Boyadjiev-Jabs syndrome.; Cranio-lenticulo-sutural dysplasia.; ", "cross_references": "MeSH; D019465.", "definition": "Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. ", "keywords": null }, { "identifier": "Craniofrontonasal syndrome.", "acronym": "CFNS.", "accession": "DI-01443", "synonyms": "CFND.; Craniofrontonasal dysostosis.; Craniofrontonasal dysplasia.; ", "cross_references": "MeSH; D019465.", "definition": "X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. ", "keywords": "KW-0989:Craniosynostosis.; " }, { "identifier": "Craniofacial microsomia 2.", "acronym": "CFM2.", "accession": "DI-06720", "synonyms": null, "cross_references": "MeSH; D006053.", "definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. Most CFM2 patients exhibit isolated unilateral or bilateral grade II/III microtia, with or without atresia, although some patients show only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed. CFM2 inheritance can be autosomal dominant or autosomal recessive. ", "keywords": null }, { "identifier": "Craniofacial microsomia 1.", "acronym": "CFM1.", "accession": "DI-06354", "synonyms": "Facioauriculovertebral sequence.; Facio-auriculo-vertebral spectrum.; FAV sequence.; Goldenhar syndrome.; Hemifacial microsomia.; HFM.; OAV dysplasia.; OAVS.; Oculoauricular vertebral dysplasia.; Oculoauriculovertebral spectrum.; Oculo-auriculo-vertebral spectrum.; ", "cross_references": "MeSH; D006053.", "definition": "A form of craniofacial microsomia, a disorder characterized by a spectrum of craniofacial malformations ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. CFM1 is an autosomal dominant form characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities. ", "keywords": null } ] }