hyperekplexia 2
hyperekplexia that has material basis in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32
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hyperekplexia 2
Summary
hyperekplexia 2 is a rare disease[1].
Key Facts
- hyperekplexia 2's instance of is recorded as rare disease[2].
- hyperekplexia 2's instance of is recorded as class of disease[3].
- hyperekplexia 2's subclass of is recorded as hyperekplexia[4].
- hyperekplexia 2's subclass of is recorded as genetic disease[5].
- hyperekplexia 2's subclass of is recorded as autosomal recessive disease[6].
- hyperekplexia 2's OMIM ID is recorded as 614619[7].
- hyperekplexia 2's Disease Ontology ID is recorded as DOID:0060697[8].
- hyperekplexia 2's Orphanet ID is recorded as 3197[9].
- hyperekplexia 2's health specialty is recorded as neurology[10].
- hyperekplexia 2's genetic association is recorded as GLRB[11].
- hyperekplexia 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060697[12].
- hyperekplexia 2's exact match is recorded as http://identifiers.org/doid/DOID:0060697[13].
- hyperekplexia 2's UMLS CUI is recorded as C3553291[14].
- hyperekplexia 2's ICD-10-CM is recorded as G25.8[15].
- hyperekplexia 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- hyperekplexia 2's Mondo ID is recorded as MONDO_0013828[17].
- hyperekplexia 2's UniProt disease ID is recorded as DI-03457[18].