Others titles
- Molecular Pathology Nomenclature
- Disease Names Database
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
Health Diseases Vocabulary
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.
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Description
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.
About this Dataset
Data Info
Date Created | 2004-01-20 |
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Last Modified | 2024-05-30 |
Version | 2024-05 |
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 |
Publicly available and free for research application but citation is required. Permission asked for commercial uses |
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 |
Data Fields
Name | Description | Type | Constraints |
---|---|---|---|
Disease_Name | Name of the disease. | string | required : 1 |
Disease_ID | Unique 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_IDs | Alternative identifiers for the disease. | string | - |
Definition | Description of the disease. | string | - |
Parent_IDs | Identifiers of the parent terms for the disease in the terms hierarchy of the vocabulary ('|'-delimited list). | string | - |
Tree_Numbers | Identifiers of the nodes where the term (disease) is located in the hierarchical tree. ('|'-delimited list) | string | required : 1 |
Parent_Tree_Numbers | Identifiers of the nodes where the parent terms of the disease are located in the tree. ('|'-delimited list) | string | - |
Synonyms | Alternative names for the disease. | string | - |
Slim_Mappings | MEDIC-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 | - |
Data Preview
Disease Name | Disease ID | Alternative Disease IDs | Definition | Parent IDs | Tree Numbers | Parent Tree Numbers | Synonyms | Slim Mappings |
10p Deletion Syndrome (Partial) | MESH:C538288 | MESH:D002872|MESH:D025063 | C16.131.260/C538288|C16.320.180/C538288|C23.550.210.050.500.500/C538288 | C16.131.260|C16.320.180|C23.550.210.050.500.500 | Chromosome 10, 10p- Partial|Chromosome 10, monosomy 10p|Chromosome 10, Partial Deletion (short arm)|Monosomy 10p | Congenital abnormality|Genetic disease (inborn)|Pathology (process) | ||
13q deletion syndrome | MESH:C535484 | MESH:D002872|MESH:D025063 | C16.131.260/C535484|C16.320.180/C535484|C23.550.210.050.500.500/C535484 | C16.131.260|C16.320.180|C23.550.210.050.500.500 | Chromosome 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 syndrome | Congenital abnormality|Genetic disease (inborn)|Pathology (process) | ||
15q24 Microdeletion | MESH:C579849 | DO:DOID:0060395 | MESH:D002872|MESH:D008607|MESH:D025063 | C10.597.606.360/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/C579849 | C10.597.606.360|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.539 | 15q24 Deletion|15q24 Microdeletion Syndrome|Interstitial Deletion of Chromosome 15q24 | Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms | |
16p11.2 Deletion Syndrome | MESH:C579850 | MESH:D001321|MESH:D002872|MESH:D008607|MESH:D025063 | C10.597.606.360/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/C579850 | C10.597.606.360|C16.131.260|C16.320.180|C23.550.210.050.500.500|C23.888.592.604.646|F03.625.164.113.500|F03.625.539 | Congenital abnormality|Genetic disease (inborn)|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms | |||
17,20-Lyase Deficiency, Isolated | MESH:C567076 | MESH:D000312 | C12.050.351.875.253.090.500/C567076|C12.200.706.316.090.500/C567076|C12.800.316.090.500/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/C567076 | C12.050.351.875.253.090.500|C12.200.706.316.090.500|C12.800.316.090.500|C16.131.939.316.129.500|C16.320.033|C16.320.565.925.249|C18.452.648.925.249|C19.053.440|C19.391.119.090.500 | 17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete|17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial | Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male) | ||
17-Hydroxysteroid Dehydrogenase Deficiency | MESH:C537805 | OMIM:264300 | MESH:D006177|MESH:D043202|MESH:D058490 | C12.050.351.875.253.096/C537805|C12.200.706.316.096/C537805|C12.800.316.096/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/C537805 | C12.050.351.875.253.096|C12.200.706.316.096|C12.800.316.096|C16.131.939.316.096|C16.320.565.925|C17.800.090.875|C18.452.648.925|C19.391.119.096 | 17 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, INCLUDED | Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Skin disease|Urogenital disease (female)|Urogenital disease (male) | |
18-Hydroxylase deficiency | MESH:C537806 | OMIM:203400|OMIM:610600 | MESH:D006994 | C19.053.500.480/C537806 | C19.053.500.480 | 18-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 Deficiency | Endocrine system disease | |
22q11 Deletion Syndrome | MESH:D058165 | Condition 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:D044148 | C05.660.207.103|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|C19.642.482.500 | C05.660.207|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|C19.642.482 | 22q11 Deletion Syndromes|Deletion Syndrome, 22q11|Deletion Syndromes, 22q11|Syndrome, 22q11 Deletion|Syndromes, 22q11 Deletion | Cardiovascular disease|Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Lymphatic disease|Musculoskeletal disease | |
2,4-Dienoyl-CoA Reductase Deficiency | MESH:C565624 | OMIM:616034 | MESH:D008052 | C16.320.565.398/C565624|C18.452.584.563/C565624|C18.452.648.398/C565624 | C16.320.565.398|C18.452.584.563|C18.452.648.398 | DECRD | Genetic disease (inborn)|Metabolic disease | |
2-hydroxyethyl methacrylate sensitization | MESH:C535305 | MESH:D017449 | C17.800.174.255.100/C535305|C17.800.815.255.100/C535305|C20.543.418.150/C535305 | C17.800.174.255.100|C17.800.815.255.100|C20.543.418.150 | Sensitization to 2-hydroxyethyl methacrylate | Immune system disease|Skin disease |