Human Disease List
GET /api/human_diseases/?format=api&offset=4940&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4960&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4920&ordering=-identifier", "results": [ { "identifier": "Developmental and epileptic encephalopathy 107.", "acronym": "DEE107.", "accession": "DI-06502", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 106.", "acronym": "DEE106.", "accession": "DI-06501", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE106 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals have profound global developmental delay, limited ability to move, and severely impaired intellectual development with absent speech. Non- specific brain abnormalities may be observed on MRI. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 105 with hypopituitarism.", "acronym": "DEE105.", "accession": "DI-06474", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 104.", "acronym": "DEE104.", "accession": "DI-06457", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE104 is an autosomal dominant form characterized by onset of developmental delay and drug-resistant focal and generalized tonic-clonic seizures in the first few months of life. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 103.", "acronym": "DEE103.", "accession": "DI-06431", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE103 is an autosomal dominant form characterized by onset of various types of seizures in the first year of life. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 102.", "acronym": "DEE102.", "accession": "DI-06430", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE102 is an autosomal recessive form characterized by onset of variable types of seizures in infancy. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 101.", "acronym": "DEE101.", "accession": "DI-06373", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE101 is an autosomal recessive, severe form characterized by onset of seizures in early infancy. Death in infancy may occur. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 100.", "acronym": "DEE100.", "accession": "DI-06361", "synonyms": null, "cross_references": "MeSH; D013036.", "definition": "A form of epileptic encephalopathy, a heterogeneous group of early- onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE100 is an autosomal dominant, severe form characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Developmental and epileptic encephalopathy 1.", "acronym": "DEE1.", "accession": "DI-00471", "synonyms": "EIEE1.; Epileptic encephalopathy, early infantile, 1.; Infantile epileptic-dyskinetic encephalopathy.; Infantile spasm syndrome X-linked 1.; ISSX1.; Myoclonic epilepsy X-linked with intellectual disability and spasticity.; Ohtahara syndrome X-linked.; West syndrome X-linked.; XMESID.; ", "cross_references": "MeSH; D013036.", "definition": "A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "Desmosterolosis.", "acronym": "DESMOS.", "accession": "DI-01482", "synonyms": null, "cross_references": "MedGen; C1865596.", "definition": "Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. ", "keywords": null }, { "identifier": "Desmoid disease, hereditary.", "acronym": "DESMD.", "accession": "DI-01711", "synonyms": "Familial infiltrative fibromatosis.; FIF.; ", "cross_references": "MeSH; D018222.", "definition": "An autosomal dominant disease characterized by multifocal fibromatosis of the abdominal wall and mesentery. Desmoid tumors can also affect paraspinal muscles, breast, occiput, arms, and lower ribs. ", "keywords": null }, { "identifier": "Desbuquois dysplasia 2.", "acronym": "DBQD2.", "accession": "DI-04114", "synonyms": "Baratela-Scott syndrome.; ", "cross_references": "MeSH; D019465.", "definition": "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "Desbuquois dysplasia 1.", "acronym": "DBQD1.", "accession": "DI-02521", "synonyms": "Desbuquois syndrome.; Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification.; ", "cross_references": "MeSH; D019465.", "definition": "A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "DeSanto-Shinawi syndrome.", "acronym": "DESSH.", "accession": "DI-04620", "synonyms": null, "cross_references": "MeSH; D000015.", "definition": "An autosomal dominant syndrome characterized by developmental delay, hypotonia, behavioral problems, eye abnormalities, constipation, feeding difficulties, seizures and sleep problems. Patients exhibit dysmorphic features, including broad/prominent forehead, synophrys and/or bushy eyebrows, depressed nasal bridge and bulbous nasal tip. Additional variable features are posteriorly rotated ears, hirsutism, deep-set eyes, thin upper lip, inverted nipples, hearing loss and branchial cleft anomalies. ", "keywords": null }, { "identifier": "De Sanctis-Cacchione syndrome.", "acronym": "DSC.", "accession": "DI-00389", "synonyms": "Xerodermic idiocy.; Xerodermic idiocy of de Sanctis and Cacchione.; ", "cross_references": "MeSH; D014983.", "definition": "An autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with intellectual disability, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset. ", "keywords": "KW-0242:Dwarfism.; KW-0857:Xeroderma pigmentosum.; KW-0991:Intellectual disability.; " }, { "identifier": "Dermatopathia pigmentosa reticularis.", "acronym": "DPR.", "accession": "DI-00388", "synonyms": null, "cross_references": "MeSH; D004476.", "definition": "A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. ", "keywords": "KW-0038:Ectodermal dysplasia.; " }, { "identifier": "Dermatitis atopic 2.", "acronym": "ATOD2.", "accession": "DI-01194", "synonyms": "Atopic eczema.; ", "cross_references": "MeSH; D003876.", "definition": "Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. ", "keywords": null }, { "identifier": "Denys-Drash syndrome.", "acronym": "DDS.", "accession": "DI-01480", "synonyms": null, "cross_references": "MedGen; C0950121.", "definition": "Typical nephropathy characterized by diffuse mesangial sclerosis, genital abnormalities, and/or Wilms tumor. There is phenotypic overlap with WAGR syndrome and Frasier syndrome. Inheritance is autosomal dominant, but most cases are sporadic. ", "keywords": null }, { "identifier": "Dentinogenesis imperfecta, Shields type 3.", "acronym": "DGI3.", "accession": "DI-01478", "synonyms": "Brandywine type dentinogenesis imperfecta.; ", "cross_references": "MeSH; D003811.", "definition": "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI3 teeth typically manifest multiple periapical radiolucencies. DGI3 is not associated with osteogenesis imperfecta. ", "keywords": null }, { "identifier": "Dentinogenesis imperfecta, Shields type 2.", "acronym": "DGI2.", "accession": "DI-01479", "synonyms": "Capdepont teeth.; Dentinogenesis imperfecta 1.; Dentinogenesis imperfecta Shields type II.; Dentinogenesis imperfecta without osteogenesis imperfecta.; DGI1.; DGI-II.; Non-syndromic dentinogenesis imperfecta.; Non-syndromic DGI.; Opalescent dentin.; Opalescent teeth without osteogenesis imperfecta.; ", "cross_references": "MeSH; D003811.", "definition": "A form of dentinogenesis imperfecta, an autosomal dominant dentin disorder characterized by amber-brown, opalescent teeth that fracture and shed their enamel during mastication, thereby exposing the dentin to rapid wear. Radiographically, the crown appears bulbous and pulpal obliteration is common. The pulp chambers are initially larger than normal prior and immediately after tooth eruption, and then progressively close down to become almost obliterated by abnormal dentin formation. Roots are short and thin. Both primary and permanent teeth are affected. DGI2 is not associated with osteogenesis imperfecta. ", "keywords": null } ] }