Health Diseases Vocabulary

$179 / year

This dataset contains the terms of the vocabulary, organized in a hierarchical manner, used in the Comparative Toxicogenomics Database (CTD) to describe the diseases inferred to have a relationship with a gene or chemical. The dataset contains different types of standardized identifications for the disease to provide a cross-platform compatibility making able to identify the chemical in major scientific databases.

Complexity

The Comparative Toxicogenomics Database purpose is to provide a tool to generate new hypotheses on the mechanism of chemicals in the development of diseases by collecting curated data reported in the scientific literature on chemicals, genes and diseases and making inferences on the relationships of these three elements.

The CTD datasets can be used to create a tool for input of queries to obtain inferred relationships between genes, chemicals and diseases and the significance of the inferences. When a query is run, the terms on this dataset are displayed in the resulting output of an inference made between a chemical and a gene that share a disease in common, and these terms are also used for the search of diseases and their inferences.

Date Created

2004-01-20

Last Modified

2019-08-30

Version

2019-08

Update Frequency

Monthly

Temporal Coverage

N/A

Spatial Coverage

N/A

Source

John Snow Labs; Comparative Toxicogenomics Database;

Source License URL

Source License Requirements

Publicly available and free for research application but citation is required. Permission asked for commercial uses

Source Citation

Davis AP, Grondin CJ, Johnson RJ, Sciaky D, King BL, McMorran R, Wiegers J, Wiegers TC, Mattingly CJ. The Comparative Toxicogenomics Database update 2017. Nucleic Acids Res. 2016 Sep 19;[Epub ahead of print]

Keywords

Gene Vocabulary Terms, Scientific Literature on Chemicals, Gene and Disease Relationship, Heterogeneous Exposure Information, Comparative Toxicogenomics Database, Relationships Between Genes and Diseases, Chemical and Disease Inferences, Chemical Disease Hypotheses, Taxogenomics

Other Titles

Molecular Pathology Nomenclature, Disease Names Database

NameDescriptionTypeConstraints
Disease_NameName of the disease.stringrequired : 1
Disease_IDUnique identifier assigned to the disease by MeSH or OMIM, linked to the source record(s) for the disease. OMIM (Online Medelian Inheritance in Man) is a database of human genes and genetic disorders that displays the type of genetic variation and expression; OMIM uses a six-digit identifier for each gene or genetic disorder. MeSH is a controlled vocabulary of thousands of biomedical terms (including diseases) that serves to standardize the terminology used in published texts that belong to life sciences. Each MeSH term has a unique identifier, which can be from 7 to 8 character length. The MeSH unique identifier was changed to 10-character length after November 2013.string-
Alternative_Disease_IDsAlternative identifiers for the disease.string-
DefinitionDescription of the disease.string-
Parent_IDsIdentifiers of the parent terms for the disease in the terms hierarchy of the vocabulary ('|'-delimited list).string-
Tree_NumbersIdentifiers of the nodes where the term (disease) is located in the hierarchical tree. ('|'-delimited list)stringrequired : 1
Parent_Tree_NumbersIdentifiers of the nodes where the parent terms of the disease are located in the tree. ('|'-delimited list)string-
SynonymsAlternative names for the disease.string-
Slim_MappingsMEDIC-Slim terms for the disease. CTD's MEDIC disease vocabulary is a modified subset of descriptors from the “Diseases” [C] branch of the U.S. National Library of Medicine's Medical Subject Headings (MeSH®), combined with genetic disorders from the Online Mendelian Inheritance in Man® (OMIM®) database.string-
Disease NameDisease IDAlternative Disease IDsDefinitionParent IDsTree NumbersParent Tree NumbersSynonymsSlim Mappings
10p Deletion Syndrome (Partial)MESH:C538288MESH:D002872|MESH:D025063C16.131.260/C538288|C16.320.180/C538288|C23.550.210.050.500.500/C538288C16.131.260|C16.320.180|C23.550.210.050.500.500Chromosome 10, 10p- Partial|Chromosome 10, monosomy 10p|Chromosome 10, Partial Deletion (short arm)|Monosomy 10pCongenital abnormality|Genetic disease (inborn)|Pathology (process)
13q deletion syndromeMESH:C535484MESH:D002872|MESH:D025063C16.131.260/C535484|C16.320.180/C535484|C23.550.210.050.500.500/C535484C16.131.260|C16.320.180|C23.550.210.050.500.500Chromosome 13q deletion|Chromosome 13q deletion syndrome|Chromosome 13q monosomy|Chromosome 13q syndrome|Deletion 13q|Deletion 13q syndrome|Monosomy 13q|Monosomy 13q syndrome|Orbeli's syndrome|Orbeli syndromeCongenital abnormality|Genetic disease (inborn)|Pathology (process)
15q24 MicrodeletionMESH:C579849DO:DOID:0060395MESH:D002872|MESH:D008607|MESH:D025063C10.597.606.360/C579849|C16.131.260/C579849|C16.320.180/C579849|C23.550.210.050.500.500/C579849|C23.888.592.604.646/C579849|F03.625.539/C579849C10.597.606.360|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.53915q24 Deletion|15q24 Microdeletion Syndrome|Interstitial Deletion of Chromosome 15q24Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
16p11.2 Deletion SyndromeMESH:C579850MESH:D001321|MESH:D002872|MESH:D008607|MESH:D025063C10.597.606.360/C579850|C16.131.260/C579850|C16.320.180/C579850|C23.550.210.050.500.500/C579850|C23.888.592.604.646/C579850|F03.625.164.113.500/C579850|F03.625.539/C579850C10.597.606.360|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.164.113.500|F03.625.539Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
17,20-Lyase Deficiency, IsolatedMESH:C567076MESH:D000312C12.706.316.090.500/C567076|C13.351.875.253.090.500/C567076|C16.131.939.316.129.500/C567076|C16.320.033/C567076|C16.320.565.925.249/C567076|C18.452.648.925.249/C567076|C19.053.440/C567076|C19.391.119.090.500/C567076C12.706.316.090.500|C13.351.875.253.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.50017-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete|17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined PartialCongenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)
17-Hydroxysteroid Dehydrogenase DeficiencyMESH:C537805OMIM:264300MESH:D006177|MESH:D043202|MESH:D058490C12.706.316.096/C537805|C13.351.875.253.096/C537805|C16.131.939.316.096/C537805|C16.320.565.925/C537805|C17.800.090.875/C537805|C18.452.648.925/C537805|C19.391.119.096/C537805C12.706.316.096|C13.351.875.253.096|C16.131.939.316.096|C16.320.565.925|C17.800.090.875|C18.452.648.925|C19.391.119.09617 alpha ketosteroid reductase deficiency of testis|17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency|17 Beta-hydroxysteroid dehydrogenase deficiency|17-Beta Hydroxysteroid Dehydrogenase III Deficiency|17-Ketosteroid Reductase Deficiency Of Testis|17-Ksr Deficiency|Male pseudohermaphroditism with gynecomastia|Neutral 17 beta-hydroxysteroid oxidoreductase deficiency|Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency|Pseudohermaphroditism, Male, with Gynecomastia|PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARY SYNDROME DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY, INCLUDEDCongenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male)
18-Hydroxylase deficiencyMESH:C537806OMIM:203400|OMIM:610600MESH:D006994C19.053.500.480/C537806C19.053.500.48018-alpha hydroxylase deficiency|18-HYDROXYLASE DEFICIENCY|18-Oxidase Deficiency|Aldosterone deficiency 1|Aldosterone deficiency due to defect in 18-hydroxylase|ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE|ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE|ALDOSTERONE DEFICIENCY I|ALDOSTERONE DEFICIENCY II|Aldosterone Deficiency Type I|Aldosterone Deficiency Type II|CMO I Deficiency|CMO II Deficiency|Corticosterone methyloxidase type 1 deficiency|Corticosterone Methyloxidase Type I Deficiency|Corticosterone Methyloxidase Type II Deficiency|FHHA1A|FHHA1B|HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1|Hyperreninemic Hypoaldosteronism, Familial, Type I|Steroid 18-Hydroxylase Deficiency|Steroid 18-Oxidase DeficiencyEndocrine system disease
22q11 Deletion SyndromeMESH:D058165Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.MESH:D000015|MESH:D006330|MESH:D007011|MESH:D019465|MESH:D025063|MESH:D044148C05.660.207.103|C14.240.400.021|C14.280.400.044|C15.604.451.249|C16.131.077.019|C16.131.240.400.021|C16.131.260.019|C16.131.482.249|C16.131.621.207.103|C16.320.180.019|C19.642.482.500C05.660.207|C14.240.400|C14.280.400|C15.604.451|C16.131.077|C16.131.240.400|C16.131.260|C16.131.482|C16.131.621.207|C16.320.180|C19.642.48222q11 Deletion Syndromes|Deletion Syndrome, 22q11|Deletion Syndromes, 22q11|Syndrome, 22q11 Deletion|Syndromes, 22q11 DeletionCardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease
2,4-Dienoyl-CoA Reductase DeficiencyMESH:C565624OMIM:616034MESH:D008052C16.320.565.398/C565624|C18.452.584.562/C565624|C18.452.648.398/C565624C16.320.565.398|C18.452.584.562|C18.452.648.398DECRDGenetic disease (inborn)|Metabolic disease
2-AMINOADIPIC 2-OXOADIPIC ACIDURIAOMIM:204750MESH:D000592C16.320.565.100/204750|C18.452.648.100/204750C16.320.565.100|C18.452.648.100AMOXADGenetic disease (inborn)|Metabolic disease