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's subclass of is recorded as hyperekplexia[4].
- hyperekplexia 3's subclass of is recorded as genetic disease[5].
- hyperekplexia 3's subclass of is recorded as autosomal dominant disease[6].
- hyperekplexia 3's subclass of is recorded as autosomal recessive disease[7].
- hyperekplexia 3's OMIM ID is recorded as 614618[8].
- hyperekplexia 3's Disease Ontology ID is recorded as DOID:0060698[9].
- hyperekplexia 3's Orphanet ID is recorded as 3197[10].
- hyperekplexia 3's health specialty is recorded as neurology[11].
- hyperekplexia 3's genetic association is recorded as SLC6A5[12].
- hyperekplexia 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060698[13].
- hyperekplexia 3's exact match is recorded as http://identifiers.org/doid/DOID:0060698[14].
- hyperekplexia 3's UMLS CUI is recorded as C3553288[15].
- hyperekplexia 3's ICD-10-CM is recorded as G25.8[16].
- hyperekplexia 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- hyperekplexia 3's Mondo ID is recorded as MONDO_0013827[18].
- hyperekplexia 3's UniProt disease ID is recorded as DI-03456[19].