Human Disease List
GET /api/human_diseases/?format=api&offset=6040&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6060&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6020&ordering=-identifier", "results": [ { "identifier": "Brody disease.", "acronym": "BROD.", "accession": "DI-00200", "synonyms": "Brody myopathy.; ", "cross_references": "MeSH; D009120.", "definition": "An autosomal recessive muscular disorder characterized by exercise- induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. ", "keywords": null }, { "identifier": "Brittle cornea syndrome 2.", "acronym": "BCS2.", "accession": "DI-03176", "synonyms": null, "cross_references": "MeSH; D004535.", "definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints. ", "keywords": null }, { "identifier": "Brittle cornea syndrome 1.", "acronym": "BCS1.", "accession": "DI-00441", "synonyms": "Corneal fragility keratoglobus blue sclerae joint hyperextensibility.; Dysgenesis mesodermalis corneae et sclerae.; EDS6B formerly.; Ehlers-Danlos syndrome type VIB formerly.; Fragilitas oculi with joint hyperextensibility.; ", "cross_references": "MeSH; D004535.", "definition": "A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6). ", "keywords": null }, { "identifier": "Breast-ovarian cancer, familial, 5.", "acronym": "BROVCA5.", "accession": "DI-06717", "synonyms": null, "cross_references": "MeSH; D010051.", "definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ", "keywords": null }, { "identifier": "Breast-ovarian cancer, familial, 4.", "acronym": "BROVCA4.", "accession": "DI-03288", "synonyms": "Breast cancer familial 4.; Ovarian cancer familial 4.; ", "cross_references": "MeSH; D010051.", "definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ", "keywords": null }, { "identifier": "Breast-ovarian cancer, familial, 3.", "acronym": "BROVCA3.", "accession": "DI-02774", "synonyms": "Breast cancer familial 3.; Ovarian cancer familial 3.; ", "cross_references": "MeSH; D010051.", "definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ", "keywords": null }, { "identifier": "Breast-ovarian cancer, familial, 2.", "acronym": "BROVCA2.", "accession": "DI-02603", "synonyms": "Breast cancer familial 2.; Ovarian cancer familial 2.; ", "cross_references": "MeSH; D010051.", "definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ", "keywords": null }, { "identifier": "Breast-ovarian cancer, familial, 1.", "acronym": "BROVCA1.", "accession": "DI-01559", "synonyms": "Breast cancer familial 1.; Ovarian cancer familial 1.; ", "cross_references": "MeSH; D010051.", "definition": "A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate. ", "keywords": null }, { "identifier": "Breast cancer, lobular.", "acronym": "LBC.", "accession": "DI-03803", "synonyms": null, "cross_references": "MeSH; D001943.", "definition": "A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. ", "keywords": null }, { "identifier": "Breast cancer.", "acronym": "BC.", "accession": "DI-02602", "synonyms": "Breast cancer familial.; Breast cancer familial male.; Breast carcinoma.; Mammary carcinoma.; ", "cross_references": "MeSH; D001943.", "definition": "A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. ", "keywords": null }, { "identifier": "Branchiootorenal syndrome 2.", "acronym": "BOR2.", "accession": "DI-01298", "synonyms": "BOR syndrome 2.; Branchiootorenal dysplasia 2.; Branchio-oto-renal dysplasia 2.; Branchio-oto-renal syndrome type 2.; ", "cross_references": "MeSH; D019280.", "definition": "A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Branchiootorenal syndrome 1.", "acronym": "BOR1.", "accession": "DI-01297", "synonyms": "BOR syndrome 1.; Branchiootorenal dysplasia 1.; Branchio-oto-renal dysplasia 1.; Branchio-oto-renal syndrome type 1.; Melnick-Fraser syndrome.; ", "cross_references": "MeSH; D019280.", "definition": "A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Branchiootic syndrome 3.", "acronym": "BOS3.", "accession": "DI-01296", "synonyms": "BO syndrome 3.; Branchio-otic dysplasia 3.; Branchio-otic syndrome 3.; ", "cross_references": "MeSH; D003638.", "definition": "A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Branchiootic syndrome 1.", "acronym": "BOS1.", "accession": "DI-01295", "synonyms": "BO syndrome 1.; Branchio-otic dysplasia 1.; Branchio-otic syndrome 1.; ", "cross_references": "MeSH; D003638.", "definition": "A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "Branchiooculofacial syndrome.", "acronym": "BOFS.", "accession": "DI-01294", "synonyms": "BOF syndrome.; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging.; Branchio-oculo-facial syndrome.; Hemangiomatous branchial clefts-lip pseudocleft syndrome.; Lip pseudocleft-hemangiomatous branchial cyst syndrome.; ", "cross_references": "MeSH; D019280.", "definition": "A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. ", "keywords": null }, { "identifier": "Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome.", "acronym": "BCAHH.", "accession": "DI-06584", "synonyms": null, "cross_references": "MeSH; D003409.", "definition": "An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature. ", "keywords": "KW-0209:Deafness.; KW-0984:Congenital hypothyroidism.; " }, { "identifier": "Branched-chain ketoacid dehydrogenase kinase deficiency.", "acronym": "BCKDKD.", "accession": "DI-03567", "synonyms": null, "cross_references": "MeSH; D020739.", "definition": "A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1269:Autism.; " }, { "identifier": "Brain small vessel disease 3.", "acronym": "BSVD3.", "accession": "DI-05511", "synonyms": null, "cross_references": "MeSH; D001927.", "definition": "An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. ", "keywords": null }, { "identifier": "Brain small vessel disease 2.", "acronym": "BSVD2.", "accession": "DI-03378", "synonyms": "Gould syndrome 2.; POREN2.; Porencephaly 2.; ", "cross_references": "MeSH; D001927.", "definition": "An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures. ", "keywords": null }, { "identifier": "Brain small vessel disease 1 with or without ocular anomalies.", "acronym": "BSVD1.", "accession": "DI-02182", "synonyms": "ADT1P.; Brain small vessel disease with Axenfeld-Rieger anomaly.; Brain small vessel disease with hemorrhage.; Gould syndrome 1.; Hemiplegia infantile with porencephaly.; Leukoencephalopathy with Axenfeld-Rieger anomaly.; POREN1.; Porencephaly 1.; Porencephaly type 1.; Porencephaly type 1 autosomal dominant.; Retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant.; T1P.; ", "cross_references": "MeSH; D001927.", "definition": "An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid- filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies. ", "keywords": null } ] }