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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
Acronym | HRDO |
Visibility | Public |
Description | This resource was designed during a PhD in medical informatics (funded by INSERM, 2010-2012). Its components are (i) a core ontology consistent with a metamodel (disorders and groups of disorders, genes, clinical signs and their relations) and (ii) an instantiation of this metamodel with Orphanet Data (available on http://orphadata.org). br> Research experiments demonstrated (i) efficient classifications generation based on SPARQL Construct, (ii) perspectives in semantic audit of a knowledge base, (iii) semantic comparison with OMIM (www.omim.org) using proximity measurements and (iv) opened perspectives in knowledge sharing (LORD, http://lord.bndmr.fr). Current production services of Orphanet developed ORDO, released in 2014, an ontology synchronized with their production database. This ontology is now available on Bioportal. |
Status | Alpha |
Format | OWL |
Contact | Ferdinand Dhombres, ferdinand.dhombres@inserm.fr |
Categories | Health, Human |
No views of HRDO available
Classes | 13,539 |
Individuals | 0 |
Properties | 20 |
Maximum depth | 12 |
Maximum number of children | 3,514 |
Average number of children | 13 |
Classes with a single child | 276 |
Classes with more than 25 children | 30 |
Classes with no definition | 13,538 |
Jump to:
Id | http://www.limics.org/hrdo/rdfns#pat_id_2453
http://www.limics.org/hrdo/rdfns#pat_id_2453
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Preferred Name | Nevo syndrome |
Synonyms |
Cerebral gigantism, Nevo type
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel |
Cerebral gigantism, Nevo type
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prefLabel |
Nevo syndrome
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id_MIM |
601451
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prevalence |
<1 / 1 000 000
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inheritance |
Autosomal recessive
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id_UMLS |
C2936777
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id_OMS |
Q87.3
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prefixIRI |
hrdo:pat_id_2453
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id_Orpha |
2691
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subClassOf | |
patType |
malformation syndrome
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id_MeSH |
C536113
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type | |
id_Medline |
neant
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ageOfOnset |
Neonatal/infancy
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Add NCBO Web Widgets to your site for HRDO
Widget type | Widget demonstration |
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Step 2: Follow the Instructions
For more help visit NCBO Widget Wiki |
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Example 1 (start typing the class name to get its full URI)
Example 2 (get the ID for a class) Example 3 (get the preferred name for a class) Step 2: Follow the Instructions
For more help visit NCBO Widget Wiki |
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Step 2: Follow the InstructionsCopy the code below and paste it to your HTML page <iframe frameborder="0" src="/widgets/visualization?ontology=HRDO&class=http%3A%2F%2Fwww.limics.org%2Fhrdo%2Frdfns%23sgn_id_39500&apikey=YOUR_API_KEY"></iframe> For more help visit NCBO Widget Wiki |
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Step 2: Follow the InstructionsCopy the code below and paste it to your HTML page <link rel="stylesheet" type="text/css" href="/widgets/jquery.ncbo.tree.css"> <script src="/widgets/jquery.ncbo.tree-2.0.2.js"></script> <div id="widget_tree"></div> var widget_tree = $("#widget_tree").NCBOTree({ apikey: "YOUR_API_KEY", ontology: "HRDO" }); You can also view a detailed demonstration For more help visit NCBO Widget Wiki |