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Q27927007-A071FAC2-D3B4-46B9-8B55-32C44BD82C4A
Q27927007-A071FAC2-D3B4-46B9-8B55-32C44BD82C4A
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Statement
http://www.wikidata.org/entity/statement/Q27927007-A071FAC2-D3B4-46B9-8B55-32C44BD82C4A
The Human Phenotype Ontology in 2017
P2860
Q27927007-A071FAC2-D3B4-46B9-8B55-32C44BD82C4A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q27927007-A071FAC2-D3B4-46B9-8B55-32C44BD82C4A
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82db99d07339f2ffcbcd0beb5f2d48b2aec6ffa5
P2860
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome