# Disease(DOID)
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DOID:0050765 | neuroacanthocytosis | null | null |
DOID:0050766 | chorea-acanthocytosis | null | null |
DOID:0050767 | midface dysplasia | null | null |
DOID:0050768 | mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | A mitochondrial metabolism disease that has material basis in mutation in the ATPAF2 gene on chromosome 17p11. [url:http\://omim.org/entry/604273] | MC5DN1 EXACT [] |
DOID:0050769 | N syndrome | null | NSX EXACT [OMIM:310465] |
DOID:0050770 | polycystic liver disease | null | null |
DOID:0050771 | phaeochromocytoma | null | null |
DOID:0050772 | spastic ataxia 1 | null | null |
DOID:0050773 | paraganglioma | null | chemodectoma EXACT [] |
DOID:0050774 | rapadilino syndrome | null | null |
DOID:0050775 | schneckenbecken dysplasia | null | null |
DOID:0050776 | non-syndromic X-linked intellectual disability | A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. [url:http\://www.ncbi.nlm.nih.gov/pubmed/7011032] | non-specific X-linked mental retardation EXACT [] |
DOID:0050777 | Joubert syndrome | A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1022&Disease_Disease_Search_diseaseGroup=Joubert-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Joubert-syndrome--Joubert-Boltshauser-syndrome-&title=Joubert-syndrome--Joubert-Boltshauser-syndrome-&search=Disease_Search_Simple] | JBTS EXACT [] |
DOID:0050778 | Meckel syndrome | A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. [url:http\://en.wikipedia.org/wiki/Meckel_syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract] | Meckel-Gruber syndrome EXACT [] |
DOID:0050779 | hydrolethalus syndrome | An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:http\://www.ncbi.nlm.nih.gov/pubmed/15843405] | Salonen-Herva-Norio syndrome EXACT [] |
DOID:0050780 | Opitz-GBBB syndrome | A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:http\://www.omim.org/entry/145410?search=Opitz-GBBB%20syndrome&highlight=syndromic%20syndrome%20opitzgbbb] | Opitz G/BBB Syndrome EXACT [] |
DOID:0050781 | Ogden syndrome | An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. [url:http\://en.wikipedia.org/wiki/N-acetyltransferase, url:http\://en.wikipedia.org/wiki/NatA_Acetyltransferase, url:http\://rarediseases.info.nih.gov/gard/188/n-acetyltransferase-deficiency/resources/1, url:http\://repository.cshl.edu/id/eprint/27483, url:http\://www.nature.com/news/2011/110623/full/news.2011.382.html, url:http\://www.ncbi.nlm.nih.gov/gene/8260, url:http\://www.ncbi.nlm.nih.gov/pubmed/21700266, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276432, url:www.omim.org/entry/300855?search=300855] | X-linked Malformation and Infantile Lethality Syndrome EXACT [] |
DOID:0050782 | Zollinger-Ellison Syndrome | A syndrome that is haracterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. [url:http\://digestive.niddk.nih.gov/ddiseases/pubs/zollinger/, url:http\://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract] | null |
DOID:0050783 | secondary progressive multiple sclerosis | A multiple sclerosis that is characterised by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms] | SPMS EXACT [] |
DOID:0050784 | primary progressive multiple sclerosis | A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx] | Primary-progressive MS EXACT [] |
DOID:0050785 | progressive relapsing multiple sclerosis | A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. [url:http\://www.mayoclinic.org/multiple-sclerosis/types.html, url:http\://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/progressive-relapsing-ms/index.aspx] | Progressive-relapsing MS EXACT [] |
DOID:0050786 | iridogoniodysgenesis syndrome | An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. [url:http\://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, url:http\://rarediseases.info.nih.gov/gard/3026/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/19175065] | iridogoniodysgenesis type 2 EXACT [] |
DOID:0050787 | juvenile polyposis syndrome | An autosomal dominant disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/] | null |
DOID:0050788 | proximal symphalangism | An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. [url:http\://omim.org/entry/185800?search=185800&highlight=185800, url:http\://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250] | Cushing's symphalangism EXACT [] |
DOID:0050789 | tarsal-carpal coalition syndrome | An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:http\://omim.org/entry/186570?search=186570&highlight=186570, url:http\://rarediseases.info.nih.gov/gard/9225/tarsal-carpal-coalition-syndrome/resources/1, url:http\://www.ncbi.nlm.nih.gov/pubmed/22326510, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412] | null |
DOID:0050790 | fibular hypoplasia and complex brachydactyly | An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. [url:http\://omim.org/entry/228900?search=228900&highlight=228900, url:http\://www.ncbi.nlm.nih.gov/pubmed/16222676, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2413&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2639&Disease%28s%29/group%20of%20diseases=Du-Pan-syndrome&title=Du-Pan-syndrome&search=Disease_Search_Simple] | Du Pan syndrome EXACT [] |
DOID:0050791 | persistent mullerian duct syndrome | A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. [url:http\://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome, url:http\://omim.org/entry/261550?search=261550&highlight=261550, url:http\://www.ncbi.nlm.nih.gov/pubmed/20352001, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856] | null |
DOID:0050792 | multiple cutaneous and mucosal venous malformations | An autosomal dominant disease that is characterized by multiple bluish cutaneous or mucosal venous lesions. [url:http\://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malformations, url:http\://omim.org/entry/600195?search=600195&highlight=600195, url:http\://www.ncbi.nlm.nih.gov/pubmed/20301733] | null |
DOID:0050793 | short QT syndrome | An autosomal dominant disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. [url:http\://en.wikipedia.org/wiki/Short_QT_syndrome, url:http\://ghr.nlm.nih.gov/condition/short-qt-syndrome, url:http\://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083] | null |
DOID:0050794 | multiple synostoses syndrome | A dysostosis that is characterized by premature joint ankylosis and has_material_basis_in autosomal dominant inhertitance. [url:http\://rarediseases.info.nih.gov/gard/3836/disease/resources/1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3237] | null |
DOID:0050795 | cone dystrophy | A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/] | retinal cone dystrophy EXACT [] |
DOID:0050796 | achalasia microcephaly syndrome | An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). [url:http\://omim.org/entry/200450, url:http\://rarediseases.info.nih.gov/gard/456/disease/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN] | ACHALASIA-MICROCEPHALY SYNDROME EXACT [] |
DOID:0050797 | peroxisomal acyl-CoA oxidase deficiency | A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. [url:http\://www.ncbi.nlm.nih.gov/pubmed/11815777, url:http\://www.ncbi.nlm.nih.gov/pubmed/17458872, url:http\://www.ncbi.nlm.nih.gov/pubmed/18536048, url:http\://www.omim.org/entry/264470, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971] | Peroxisomal acyl-coenzyme A oxidase EXACT [] |
DOID:0050798 | cerebral creatine deficiency syndrome | null | null |
DOID:0050799 | guanidinoacetate methyltransferase deficiency | null | GAMT deficiency EXACT [] |
DOID:0050800 | creatine transporter deficiency | null | SLC6A8 deficiency EXACT [] |
DOID:0050801 | androgenic alopecia | null | androgenetic alopecia EXACT [] |
DOID:0050802 | Ehlers-Danlos syndrome progeroid type | An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001468.htm, url:http\://www.omim.org/entry/615349?search=130070&highlight=130070, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11083&MISSING%20CONTENT=Ehlers-Danlos-syndrome--progeroid-type&search=Disease_Search_Simple&title=Ehlers-Danlos-syndrome--progeroid-type] | xylosylprotein 4-beta-galactosyltransferase deficiency RELATED [] |
DOID:0050803 | glioblastoma classical subtype | A glioblastoma multiforme that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035, url:http\://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475] | null |
DOID:0050804 | glioblastoma proneural subtype | A glioblastoma multiforme that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] | null |
DOID:0050805 | glioblastoma mesenchymal subtype | A glioblastoma multiforme that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] | null |
DOID:0050806 | glioblastoma neural subtype | A glioblastoma multiforme that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. [url:http\://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes, url:http\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:http\://www.ncbi.nlm.nih.gov/pubmed/23029035] | null |
DOID:0050807 | Kahrizi syndrome | An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. [url:http\://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972] | null |
DOID:0050808 | mucopolysaccharidosis IV | null | null |
DOID:0050809 | mucopolysaccharidosis IX | A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII] | null |
DOID:0050810 | biotin deficiency | A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. [url:http\://en.wikipedia.org/wiki/Biotin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html] | B7 deficiency EXACT [] |
DOID:0050811 | congenital adrenal hyperplasia | A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. [url:http\://gallus.reactome.org/cgi-bin/instancebrowser?DB=test_gallus_reactome_release_1_myisam&ID=65160&, url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0] | lipoid CAH EXACT [] |
DOID:0050812 | spondyloepimetaphyseal dysplasia, Pakistani type | A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. [url:http\://omim.org/entry/612847, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282] | spondyloepimetaphyseal dysplasia Pakistani type EXACT [] |
DOID:0050813 | spondyloepiphyseal dysplasia with congenital joint dislocations | A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [url:http\://omim.org/entry/143095?search=143095&highlight=143095, url:http\://www.informatics.jax.org/disease/143095, url:http\://www.ncbi.nlm.nih.gov/gtr/conditions/C1840471/, url:http\://www.uniprot.org/diseases/DI-01753] | Spondyloepiphyseal Dysplasia EXACT [] |
DOID:0050814 | temtamy preaxial brachydactyly syndrome | An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. [url:http\://www.ncbi.nlm.nih.gov/pubmed/21129728, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, url:http\://www.sciencedirect.com/science/article/pii/S1769721213002449] | PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE EXACT [] |
DOID:0050815 | eye adnexa disease | An eye and adnexa disease that is located_in the adnexa of the eye. [url:http\://en.wikipedia.org/wiki/Accessory_visual_structures] | null |
DOID:0050816 | urofacial syndrome | An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. [url:http\://en.wikipedia.org/wiki/Urofacial_syndrome, url:http\://omim.org/entry/236730, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704] | Ochoa syndrome EXACT [] |
DOID:0050817 | Stargardt disease | An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. [url:http\://en.wikipedia.org/wiki/Stargardt_disease] | STARGARDT DISEASE 1 EXACT [] |
DOID:0050818 | transcobalamin II deficiency | A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. [url:http\://omim.org/entry/275350, url:https\://www.orpha.net/data/patho/GB/uk-TCII.pdf] | TCN2 deficiency EXACT [] |
DOID:0050819 | Matthew-Wood syndrome | An autosomal genetic disease that is characterized by microphthalmia or anophthalmia, pulmonary agenesis, and diaphragmatic defect. [url:http\://omim.org/entry/601186?search=%22syndromic%20MICROPHTHALMIa%22&highlight=%22%28syndrome|syndromic%29%20microphthalmia%22, url:http\://www.ncbi.nlm.nih.gov/pubmed/17236193, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2470] | microphthalmia syndromic type 9 EXACT [] |
DOID:0050820 | atrioventricular block | A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. [url:http\://en.wikipedia.org/wiki/Atrioventricular_block] | AV block EXACT [] |
DOID:0050821 | first-degree atrioventricular block | null | null |
DOID:0050822 | second-degree atrioventricular block | null | second-degree heart block EXACT [] |
DOID:0050823 | third-degree atrioventricular block | null | complete AV block EXACT [] |
DOID:0050824 | sinoatrial node disease | A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. [url:http\://en.wikipedia.org/wiki/Sinoatrial_node] | sinuatrial node EXACT [] |
DOID:0050825 | endocardium disease | A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. [url:http\://en.wikipedia.org/wiki/Endocardium, url:http\://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&ved=0CCkQFjAA&url=http%3A%2F%2Fpeople.upei.ca%2Flmiller%2F2009_CV_Endocardial_Pathology%2FENDOCARDIUM-2009.pdf&ei=SsP7UsjSH8Tx0gGbgYHQAw&usg=AFQjCNH2MScGQBlPP4MG_tL5dAiBiQY_YA&sig2=nbNfx77zxOxnTA9O875QeQ&bvm=bv.61190604\,d.dmQ&cad=rja] | null |
DOID:0050826 | tricuspid valve disease | null | Tricuspid disease EXACT [MTHICD9_2006:397.0] |
DOID:0050827 | rheumatic heart disease | A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. [url:http\://en.wikipedia.org/wiki/Rheumatic_heart_disease] | null |
DOID:0050828 | artery disease | A vascular disease that is located_in an artery. [url:http\://en.wikipedia.org/wiki/Artery#Pathology] | null |
DOID:0050829 | pericardium disease | A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. [url:http\://en.wikipedia.org/wiki/Pericardium] | null |
DOID:0050830 | peripheral artery disease | An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000170.htm, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/pad/] | null |
DOID:0050831 | familial encephalopathy with neuroserpin inclusion bodies | A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. [url:http\://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, url:http\://www.jbc.org/content/277/19/17367, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport] | FENIB EXACT [] |
DOID:0050832 | pyrimidine metabolic disorder | An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. [url:http\://en.wikipedia.org/wiki/Pyrimidine_metabolism, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9] | null |
DOID:0050833 | orotic aciduria | A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. [url:http\://en.wikipedia.org/wiki/Orotic_aciduria, url:http\://www.expertconsultbook.com/expertconsult/op/book.do?method=display&type=bookPage&decorator=none&eid=4-u1.0-B978-1-4160-4478-9..50227-6--cesec50&isbn=978-1-4160-4478-9, url:http\://www.omim.org/entry/258900] | null |
DOID:0050834 | CHARGE syndrome | A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract] | CHARGE association EXACT [] |
DOID:0050835 | generalized dystonia | A dystonia that affects most or all of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] | Symptomatic torsion dystonia NOS (disorder) EXACT [SNOMEDCT_2005_07_31:192858005] |
DOID:0050836 | focal dystonia | A dystonia that is localized to a specific part of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] | null |
DOID:0050837 | multifocal dystonia | A dystonia that involves two or more unrelated body parts. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] | null |
DOID:0050838 | segmental dystonia | A dystonia that affects two or more adjacent parts of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] | null |
DOID:0050839 | anismus | null | null |
DOID:0050840 | cervical dystonia | A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. [url:http\://en.wikipedia.org/wiki/Spasmodic_torticollis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1155/] | spasmodic torticollis EXACT [] |
DOID:0050841 | focal hand dystonia | A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. [url:http\://en.wikipedia.org/wiki/Dystonia] | organic writer's cramp EXACT [] |
DOID:0050842 | oculogyric crisis | A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. [url:http\://en.wikipedia.org/wiki/Oculogyric_crisis] | null |
DOID:0050843 | oromandibular dystonia | A focal dystonia that is characterized by distortions of the mouth and tongue. [url:http\://en.wikipedia.org/wiki/Oromandibular_dystonia] | null |
DOID:0050844 | spasmodic dystonia | A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. [url:http\://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx] | laryngeal dystonia EXACT [] |
DOID:0050845 | cranio-facial dystonia | A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] | null |
DOID:0050846 | hemidystonia | A multifocal dystonia that involves the arm and leg on the same side of the body. [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm] | null |
DOID:0050847 | sleep apnea | A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. [url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/] | null |
DOID:0050848 | obstructive sleep apnea | A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. [url:http\://en.wikipedia.org/wiki/Obstructive_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000811.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1] | obstructive sleep apnea syndrome EXACT [] |
DOID:0050849 | periampullary adenoma | null | null |
DOID:0050850 | diabetic encephalopathy | null | null |
DOID:0050851 | glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. [url:http\://en.wikipedia.org/wiki/Glomerulosclerosis] | null |
DOID:0050852 | limb ischemia | null | null |
DOID:0050853 | chronic venous insufficiency | null | null |
DOID:0050854 | Muckle-Wells syndrome | null | null |
DOID:0050855 | renal fibrosis | null | null |
DOID:0050856 | oppositional defiant disorder | null | null |
DOID:0050857 | Perrault syndrome | An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. [url:http\://ghr.nlm.nih.gov/gene/LARS2, url:http\://www.ncbi.nlm.nih.gov/pubmed/23541340] | null |
DOID:0050858 | Marshall-Smith syndrome | A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [url:http\://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, url:http\://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1] | null |
DOID:0050859 | hemorrhagic cystitis | null | null |
DOID:0050860 | colorectal adenoma | null | null |
DOID:0050861 | colorectal adenocarcinoma | A colorectal cancer that derives_from epithelial cells of glandular origin. [url:http\://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma] | null |
DOID:0050862 | pyometritis | null | null |
DOID:0050863 | arteritic anterior ischemic optic neuropathy | null | null |
DOID:0050864 | non-arteritic anterior ischemic optic neuropathy | null | nonarteritic anterior ischemic optic neuropathy EXACT [] |