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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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Id | http://identifiers.org/omim/615981
http://identifiers.org/omim/615981
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Preferred Name | Bardet-Biedl syndrome 2 |
Definitions |
(BBS2) - A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
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Synonyms |
BBS2
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | (BBS2) - A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. |
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altLabel | BBS2
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prefLabel | Bardet-Biedl syndrome 2
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notation | OMIM:615981
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id | OMIM:615981
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subClassOf | |
type |
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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: "RETO" }); You can also view a detailed demonstration For more help visit NCBO Widget Wiki |