hyperekplexia 3
hyperekplexia that has material basis in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15
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hyperekplexia 3
Summary
hyperekplexia 3 is a rare disease[1].
Key Facts
- hyperekplexia 3's instance of is recorded as rare disease[2].
- hyperekplexia 3's instance of is recorded as class of disease[3].
- hyperekplexia 3 is a type of hyperekplexia[4].
- hyperekplexia 3 is a type of genetic disease[5].
- hyperekplexia 3 is a type of autosomal dominant disease[6].
- hyperekplexia 3 is a type of autosomal recessive disease[7].
- hyperekplexia 3's health specialty is recorded as neurology[8].
- hyperekplexia 3's genetic association is recorded as SLC6A5[9].
- hyperekplexia 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060698[10].
- hyperekplexia 3's exact match is recorded as http://identifiers.org/doid/DOID:0060698[11].
- hyperekplexia 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].