Digital medicine Outcomes Value Set (DOVeS) Ontology - developmental and epileptic encephalopathy - Classes | NCBO BioPortal

Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Id	http://purl.obolibrary.org/obo/MONDO_0100062 http://purl.obolibrary.org/obo/MONDO_0100062
Preferred Name	developmental and epileptic encephalopathy
Definitions	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.
Synonyms	infantile epileptic encephalopathy epileptic encephalopathy, early infantile infantile spasm early infantile epileptic encephalopathy early infantile epileptic encephalopathy with suppression-bursts EIEE DEE early infantile epileptic encephalopathy with burst-suppression developmental and epileptic encephalopathy Ohtahara syndrome epileptic encephalopathy, infantile See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.
altLabel	infantile epileptic encephalopathy epileptic encephalopathy, early infantile infantile spasm early infantile epileptic encephalopathy early infantile epileptic encephalopathy with suppression-bursts EIEE DEE early infantile epileptic encephalopathy with burst-suppression developmental and epileptic encephalopathy Ohtahara syndrome epileptic encephalopathy, infantile See more See less
label	developmental and epileptic encephalopathy
comment	Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.
prefLabel	developmental and epileptic encephalopathy
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/3680
creator	https://orcid.org/0000-0001-5208-3432
prefixIRI	MONDO:0100062
textual definition	A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015286 http://purl.obolibrary.org/obo/MONDO_0002525 http://purl.obolibrary.org/obo/MONDO_0024321 http://purl.obolibrary.org/obo/MONDO_0005579 http://purl.obolibrary.org/obo/MONDO_0100022 http://purl.obolibrary.org/obo/MONDO_0100038 http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0002320 See more See less
date	2018-10-10T22:04:15Z
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	infantile epileptic encephalopathy epileptic encephalopathy, early infantile infantile spasm early infantile epileptic encephalopathy early infantile epileptic encephalopathy with suppression-bursts EIEE DEE early infantile epileptic encephalopathy with burst-suppression developmental and epileptic encephalopathy Ohtahara syndrome epileptic encephalopathy, infantile See more See less

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Add NCBO Web Widgets to your site for DOVES

Widget type	Widget demonstration
Jump To Type a class name from DOVES and jump to it in BioPortal Get code	Step 2: Follow the Instructions Download the quick_jump.js file and put it on your server Copy the code below and paste it to your HTML page Note: If you would like to use Quick Jump across multiple ontologies: You can enter a comma-separated list of ontology ids: var BP_ontology_id = "NCIt,SNOMEDCT"; You can set the variable to 'all' to search all ontologies in BioPortal: var BP_ontology_id = "all"; To include definitions in the Jump To drop-down, add the following variable in Javascript: var BP_include_definitions = true; In the code that you just pasted, make sure to change the path to the quick_jump.js file to point to the location where you put the file (relative to your HTML file) For example, if you put the quick_jump.js file in the same directory as your HTML file, this is the code you would use: <div id="bp_quick_jump"></div> <script type="text/javascript"> var BP_ontology_id = "DOVES";</script> <script src="quick_jump.js" type="text/javascript" charset="utf-8"></script> For more help visit NCBO Widget Wiki
Form Autocomplete Fill your form fields with classes from DOVES Get code	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 Download the form_complete.js file and put it on your server. In the header for the page where you want the form field, include the form_complete.js file. On your form, for the fields where you want to use the class-selection widget, specify the field's class in the following format: `bp_form_complete-{ontology_id_list}-{value}` For example, `bp_form_complete-NCIT-uri` will use NCI Thesaurus (ontology id is NCIT) and will put the class URI in the field after the user selects the class from the pull-down list. Note: In addition to single ontology ids, you can use a list: `bp_form_complete-NCIT,NCBITAXON-uri` OR use 'all' to search across all BioPortal ontologies: `bp_form_complete-all-uri` The autocomplete widget accesses ontology content from the latest version of the ontology. You can use the following parameters to select which value will be placed into the user-visible input field: `uri` put the complete URI of the class (e.g., http://purl.obolibrary.org/obo/MONDO_0044647 ) `shortid` put the short id of the class, as used in BioPortal (e.g., "Common_Neoplasm"); `name` put the preferred name of the class (e.g., "Common Neoplasm"); In addition to the input element you defined, there are four hidden form elements that are created and then set when a user selects a class from the list. For example, if you create a field with this code: <input type="text" name="a" class="bp_form_complete-all-uri" size="100"/> The 'name' attribute is used to create the four following fields (note how the 'a' from the name attribute is appended to the id attribute): <input type="hidden" id="a_bioportal_preferred_name"> <input type="hidden" id="a_bioportal_concept_id"> <input type="hidden" id="a_bioportal_ontology_id"> <input type="hidden" id="a_bioportal_full_id"> Additional parameters are documented on the NCBO Widget Wiki For more help visit NCBO Widget Wiki
Visualization Display a visualization for a given class in DOVES Get code	Step 2: Follow the Instructions Copy the code below and paste it to your HTML page <iframe frameborder="0" src="/widgets/visualization?ontology=DOVES&class=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0044647&apikey=YOUR_API_KEY"></iframe> For more help visit NCBO Widget Wiki
Tree Widget Display a class tree with a search field for DOVES Get code	Step 2: Follow the Instructions Copy 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: "DOVES" }); You can also view a detailed demonstration For more help visit NCBO Widget Wiki