# Disease(DOID)
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DOID:0050865 | tongue squamous cell carcinoma | A tongue cancer that is located_in the squamous cells of the tongue. [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma] | squamous-cell carcinoma EXACT [] |
DOID:0050866 | oral squamous cell carcinoma | An oral cavity cancer that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] | mouth squamous cell carcinoma EXACT [] |
DOID:0050867 | Jensen syndrome | A syndrome that is characterized by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. [url:http\://omim.org/entry/311150, url:http\://www.ncbi.nlm.nih.gov/pubmed/3425626, url:http\://www.ncbi.nlm.nih.gov/pubmed/7195649, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2868&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3213&Disease(s)/group%20of%20diseases=Jensen-syndrome&title=Jensen-syndrome&search=Disease_Search_Simple] | OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA EXACT [] |
DOID:0050868 | hepatocellular adenoma | null | null |
DOID:0050869 | villous adenoma | null | null |
DOID:0050870 | in situ pulmonary adenocarcinoma | A lung cancer that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. [url:http\://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma] | bronchioalveolar carcinoma EXACT [] |
DOID:0050871 | fibroma | null | null |
DOID:0050872 | large cell neuroendocrine carcinoma | null | null |
DOID:0050873 | follicular lymphoma | A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). [url:http\://en.wikipedia.org/wiki/Follicular_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=428287] | null |
DOID:0050875 | small cell neuroendocrine carcinoma | null | null |
DOID:0050876 | Caroli disease | A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. [url:http\://en.wikipedia.org/wiki/Caroli_disease, url:http\://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract] | null |
DOID:0050877 | pancreatic agenesis | A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. [url:http\://rarediseases.info.nih.gov/gard/10874/pancreatic-agenesis/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805] | partial pancreatic agenesis EXACT [] |
DOID:0050878 | CLONE OF congenital afibrinogenemia | null | Fibrinogen deficiency EXACT [SNOMEDCT_2005_07_31:29718007] |
DOID:0050879 | fragile X-associated tremor/ataxia syndrome | A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.ncbi.nlm.nih.gov/pubmed/18195136, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256] | FXTAS syndrome EXACT [] |
DOID:0050880 | Koolen de Vries syndrome | A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_physical_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. [url:http\://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, url:http\://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, url:http\://omim.org/entry/610443, url:http\://www.17q21.com/en/, url:http\://www.ncbi.nlm.nih.gov/books/NBK24676/, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544363, url:http\://www.ncbi.nlm.nih.gov/pubmed/22544367, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169] | Koolen-De Vries syndrome EXACT [] |
DOID:0050881 | inclusion body myopathy with Paget disease of bone and frontotemporal dementia | A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_physical_basis_in mutation in the valosin containing protein (VCP). [url:http\://omim.org/entry/167320, url:http\://www.ncbi.nlm.nih.gov/pubmed/19380227, url:http\://www.ncbi.nlm.nih.gov/pubmed/21892620, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=21304887, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10698&Disease_Disease_Search_diseaseGroup=inclusion-body-myopathy-with-Paget&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&title=Inclusion-body-myopathy-with-Paget-disease-of-bone-and-frontotemporal-dementia&search=Disease_Search_Simple] | inclusion body myopathy with Paget's disease of bone and frontotemporal dementia EXACT [] |
DOID:0050882 | spinocerebellar ataxia type 5 | An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_physical_basis_in a mutation in the SPTBN2 gene. [url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=20368622, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766] | null |
DOID:0050883 | infantile cerebellar-retinal degeneration | A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. [url:http\://omim.org/entry/614559, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=22405087, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23438437, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, url:http\://www.uniprot.org/diseases/DI-03409] | null |
DOID:0050884 | triosephosphate isomerase deficiency | A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_physical_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. [url:http\://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, url:http\://omim.org/entry/615512, url:http\://www.ncbi.nlm.nih.gov/pubmed/16980388, url:http\://www.ncbi.nlm.nih.gov/pubmed/17424909, url:http\://www.ncbi.nlm.nih.gov/pubmed/23318931, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport] | Triose phosphate-isomerase deficiency EXACT [] |
DOID:0050885 | IMAGe syndrome | A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_physical_basis_in heterozygous mutation in the CDKN1C gene. [url:http\://omim.org/entry/614732, url:http\://www.ncbi.nlm.nih.gov/pubmed/14760276, url:http\://www.ncbi.nlm.nih.gov/pubmed/22634751, url:http\://www.ncbi.nlm.nih.gov/pubmed/23719190, url:http\://www.ncbi.nlm.nih.gov/pubmed/24065356, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173] | intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities EXACT [] |
DOID:0050886 | Troyer syndrome | A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301556, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple] | spastic paraplegia type 20 EXACT [] |
DOID:0050887 | Townes-Brocks syndrome | An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. [url:http\://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome, url:http\://ghr.nlm.nih.gov/condition/townes-brocks-syndrome, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=12925729, url:http\://www.omim.org/entry/107480, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple] | null |
DOID:0050888 | syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. [url:http\://en.wikipedia.org/wiki/Intellectual_disability] | null |
DOID:0050889 | non-syndromic intellectual disability | An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. [url:http\://en.wikipedia.org/wiki/Intellectual_disability, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/] | null |
DOID:0050890 | synucleinopathy | A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http\://en.wikipedia.org/wiki/Synucleinopathies] | Synucleinopathies RELATED [] |
DOID:0050891 | adrenal cortical adenoma | An adrenal adenoma that is a benign tumor of the adrenal cortex. [url:http\://en.wikipedia.org/wiki/Adrenocortical_adenoma] | adrenocortical adenoma EXACT [] |
DOID:0050892 | adrenal gland pheochromocytoma | An adrenal medulla cancer that is characterized by overproduction of adrenaline. [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma, url:http\://en.wikipedia.org/wiki/Pheochromocytoma, url:http\://www.cancer.gov/cancertopics/types/pheochromocytoma] | null |
DOID:0050893 | gallbladder adenoma | A biliary tract neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. [url:http\://en.wikipedia.org/wiki/Adenoma] | null |
DOID:0050894 | ameloblastoma | A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. [url:http\://en.wikipedia.org/wiki/Ameloblastoma] | null |
DOID:0050895 | bone ameloblastoma | A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. [url:http\://en.wikipedia.org/wiki/Ameloblastoma] | null |
DOID:0050896 | bone squamous cell carcinoma | A bone carcinoma that derives_from squamous epithelial cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] | null |
DOID:0050897 | bone chondrosarcoma | A chondrosarcoma that is located_in bone. [url:http\://en.wikipedia.org/wiki/Chondrosarcoma] | null |
DOID:0050898 | phalanx chondroma | A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. [url:http\://en.wikipedia.org/wiki/Chondroma] | null |
DOID:0050899 | brain stem medulloblastoma | A brain stem cancer that begins in the lower part of the brain on the floor of the skull. [url:http\://en.wikipedia.org/wiki/Medulloblastoma] | null |
DOID:0050900 | sacrum chordoma | A spinal chordoma that is located_in the sacrum. [url:http\://en.wikipedia.org/wiki/Sacrum, url:http\://www.cancer.gov/dictionary?CdrID=45297] | null |
DOID:0050901 | corpus callosum oligodendroglioma | A brain oligodendroglioma located_in the corpus callosum. [url:http\://en.wikipedia.org/wiki/Corpus_callosum, url:http\://en.wikipedia.org/wiki/Oligodendroglioma, url:http\://www.cancer.gov/dictionary?CdrID=46257] | null |
DOID:0050902 | medulloblastoma | An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780] | localized primitive neuroectodermal tumor EXACT [] |
DOID:0050903 | parietal lobe ependymoma | A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. [url:http\://www.cancer.gov/dictionary?CdrID=46432] | null |
DOID:0050904 | salivary gland carcinoma | A salivary gland cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Salivary_gland_neoplasm, url:http\://www.cancer.gov/dictionary?CdrID=45963] | null |
DOID:0050905 | inflammatory myofibroblastic tumor | A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/, url:http\://www.ncbi.nlm.nih.gov/pubmed/?term=23091756] | null |
DOID:0050906 | conjunctival nevus | A sensory organ benign neoplasm that is located in the eye conjunctiva. [url:http\://en.wikipedia.org/wiki/Conjunctiva, url:http\://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors] | null |
DOID:0050907 | mixed extragonadal germ cell cancer | A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed, url:http\://www.cancer.gov/dictionary?CdrID=444993] | null |
DOID:0050908 | myelodysplastic syndrome | A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. [url:http\://en.wikipedia.org/wiki/Myelodysplastic_syndrome, url:http\://www.cancer.gov/dictionary?CdrID=45266] | null |
DOID:0050909 | MALT lymphoma | A non-Hodgkin lymphoma that has_material_basis_in mucosal tissue involved in antibody production. [url:http\://www.cancer.gov/dictionary?CdrID=45774] | mucosa-associated lymphoid tissue lymphoma EXACT [] |
DOID:0050910 | cecum adenoma | A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [url:http\://en.wikipedia.org/wiki/Adenoma] | caecum adenoma EXACT [] |
DOID:0050911 | appendix carcinoid tumor | An appendix cancer that has_material_basis_in neurodendocrine cells. [url:http\://en.wikipedia.org/wiki/Carcinoid, url:http\://www.cancer.gov/dictionary?CdrID=44233] | appendix carcinoid endocrine tumour EXACT [] |
DOID:0050912 | colon adenoma | A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [url:http\://en.wikipedia.org/wiki/Colorectal_adenoma, url:http\://www.cancer.gov/dictionary?CdrID=46217] | null |
DOID:0050913 | large intestine adenocarcinoma | A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. [url:http\://www.cancer.gov/dictionary?CdrID=46216] | null |
DOID:0050914 | large intestine adenoma | An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. [url:http\://en.wikipedia.org/wiki/Adenoma] | null |
DOID:0050915 | rectum adenoma | An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the rectum. [url:http\://en.wikipedia.org/wiki/Adenoma] | null |
DOID:0050916 | bronchus mucoepidermoid carcinoma | A bronchus cancer that has_material_basis_in squamous cells, mucus-secreting cells, and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma, url:http\://oralcancerfoundation.org/facts/rare/mc/] | null |
DOID:0050917 | lung combined type small cell adenocarcinoma | A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45327, url:http\://www.cancer.gov/dictionary?CdrID=46216] | null |
DOID:0050918 | vaginal carcinoma | A vaginal cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] | null |
DOID:0050919 | trachea mucoepidermoid carcinoma | A trachea carcinoma that is characterized by the presence of squamous cells, mucus-secreting cells, and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] | null |
DOID:0050920 | tonsil squamous cell carcinoma | A tonsil cancer that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] | null |
DOID:0050921 | pharynx squamous cell carcinoma | A pharynx cancer that has_material_basis_in squamous cells. [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma] | null |
DOID:0050922 | gastrointestinal carcinoma | A gastrointestinal system cancer that has_material_basis_in epithelial cells. [url:http\://en.wikipedia.org/wiki/Carcinoma] | null |
DOID:0050923 | spindle epithelial tumor with thymus-like differentiation tumor | A thyroid carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. [url:http\://www.ncbi.nlm.nih.gov/pubmed/19417583, url:http\://www.ncbi.nlm.nih.gov/pubmed/2050369, url:http\://www.pathologyoutlines.com/topic/thyroidsettle.html, url:http\://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext] | SETTLE tumor EXACT [] |
DOID:0050924 | striated muscle rhabdoid tumor | A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. [url:http\://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour, url:http\://www.cancer.gov/dictionary?CdrID=46139] | null |
DOID:0050925 | small intestine carcinoid neuroendocrine tumor | A small intestine cancer that has_material_basis_in cells of the neuroendocrine system. [url:http\://en.wikipedia.org/wiki/Carcinoid] | null |
DOID:0050926 | jejunal adenocarcinoma | A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. [url:http\://en.wikipedia.org/wiki/Adenocarcinoma] | null |
DOID:0050927 | duodenum adenoma | A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. [url:http\://en.wikipedia.org/wiki/Adenoma] | null |
DOID:0050928 | ovarian melanoma | An ovarian cancer that has_material_basis_in melanoctyes. [url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/, url:http\://www.ncbi.nlm.nih.gov/pubmed/15166669] | null |
DOID:0050929 | mucosal melanoma | A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic] | null |
DOID:0050930 | sublingual gland adenoid cystic carcinoma | A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma] | null |
DOID:0050931 | parotid gland adenoid cystic carcinoma | A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:http\://en.wikipedia.org/wiki/Parotid_gland] | null |
DOID:0050932 | lung mucoepidermoid carcinoma | A lung carcinoma that has_material_basis in a combination of squamous cells, mucus secreting cells and intermediate cells. [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma] | null |
DOID:0050933 | ovarian serous carcinoma | An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. [url:http\://en.wikipedia.org/wiki/Serous_carcinoma] | null |
DOID:0050934 | ovarian clear cell carcinoma | An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. [url:http\://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma] | clear-cell ovarian carcinoma EXACT [] |
DOID:0050935 | cervical neuroblastoma | An extracranial neuroblastoma that has_material_basis_in immature nerve cells. [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://link.springer.com/article/10.1007%2Fs12070-007-0083-5, url:http\://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487, url:http\://www.ncbi.nlm.nih.gov/pubmed/15390353, url:http\://www.ncbi.nlm.nih.gov/pubmed/9262064] | null |
DOID:0050936 | extra-adrenal pheochromocytoma | An adrenal medulla cancer that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. [url:http\://en.wikipedia.org/wiki/Pheochromocytoma] | null |
DOID:0050937 | retroperitoneal neuroblastoma | A retroperitoneal cancer that has_material_basis_in immature nerve cells. [url:http\://en.wikipedia.org/wiki/Neuroblastoma, url:http\://en.wiktionary.org/wiki/retroperitoneal] | null |
DOID:0050938 | breast lobular carcinoma | A breast carcinoma that derives_from breast lobules (milk glands). [url:http\://cancergenome.nih.gov/cancersselected/breastlobular, url:http\://www.cancer.gov/dictionary?CdrID=426416] | null |
DOID:0050939 | uterine corpus endometrial carcinoma | A uterine corpus cancer that is derived_from the inner lining of the uterus. [url:http\://cancergenome.nih.gov/cancersselected/endometrial] | null |
DOID:0050940 | endocervical adenocarcinoma | An endocervical carcinoma that derives_from epithelial cells of glandular origin. [url:http\://www.ncbi.nlm.nih.gov/pubmed/12207781] | null |
DOID:0050941 | spastic ataxia 2 | null | null |
DOID:0050942 | spastic ataxia 3 | null | null |
DOID:0050943 | spastic ataxia 4 | null | null |
DOID:0050944 | spastic ataxia 5 | null | null |
DOID:0050945 | spastic ataxia 7 | null | null |
DOID:0050946 | Charlevoix-Saguenay spastic ataxia | null | null |
DOID:0050947 | hereditary hypophosphatemic rickets with hypercalciuria | A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. [url:http\://www.omim.org/entry/241530?search=241530&highlight=241530, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple] | null |
DOID:0050948 | autosomal dominant hypophosphatemic rickets | A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. [url:http\://www.ncbi.nlm.nih.gov/pubmed/26365554, url:http\://www.omim.org/entry/193100?search=193100&highlight=193100] | null |
DOID:0050949 | autosomal recessive hypophosphatemic rickets | A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. [url:http\://www.omim.org/entry/241520?search=241520&highlight=241520, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple] | null |
DOID:0050950 | autosomal recessive cerebellar ataxia | A hereditary ataxia that has_material_basis_in autosomal recessive inheritance. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/] | null |
DOID:0050951 | hereditary ataxia | A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138] | null |
DOID:0050952 | spastic ataxia | null | null |
DOID:0050953 | X-linked hereditary ataxia | null | null |
DOID:0050954 | spinocerebellar ataxia type 1 | null | null |
DOID:0050955 | spinocerebellar ataxia type 2 | null | null |
DOID:0050956 | spinocerebellar ataxia type 6 | null | null |
DOID:0050957 | spinocerebellar ataxia type 4 | null | null |
DOID:0050958 | spinocerebellar ataxia type 7 | null | null |
DOID:0050959 | spinocerebellar ataxia type 8 | null | null |
DOID:0050960 | spinocerebellar ataxia type 10 | null | null |
DOID:0050961 | spinocerebellar ataxia type 11 | null | null |
DOID:0050962 | spinocerebellar ataxia type 12 | null | null |
DOID:0050963 | spinocerebellar ataxia type 13 | null | null |
DOID:0050964 | spinocerebellar ataxia type 14 | null | null |
DOID:0050965 | spinocerebellar ataxia type 15 | null | null |