Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614896 http://purl.bioontology.org/ontology/OMIM/614896
Preferred Name	SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
Synonyms	SANDD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SANDD
prefLabel	SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
Gene Symbol	CACNA1D SANDD CACNL1A2 CCHL1A2 PASNA
Scope Statement	Caused by mutation in the alpha-1D subunit of the L-type voltage-dependent calcium channel gene (CACNA1D, 114206.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040564 http://purl.bioontology.org/ontology/OMIM/MTHU001732 http://purl.bioontology.org/ontology/OMIM/MTHU040565 http://purl.bioontology.org/ontology/OMIM/MTHU019192
tui	T047
Gene Locus	3p21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614896
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554018
OMIM Entry Type	3
OMIM MimType Value	pound

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