Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/615544 http://purl.bioontology.org/ontology/OMIM/615544
Preferred Name	PERIVENTRICULAR NODULAR HETEROTOPIA 6
Synonyms	PVNH6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PVNH6
prefLabel	PERIVENTRICULAR NODULAR HETEROTOPIA 6
Gene Symbol	PVNH6 ERMARD C6orf70
notation	615544
Scope Statement	Caused by mutation in the endoplasmic reticulum membrane-associated RNA degradation protein gene (ERMARD, 615532.0001) [MOLECULAR BASIS] One patient has been reported (last curated November 2013) [MISCELLANEOUS]
OMIM MimType Value	pound
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006120 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU042504 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU022865 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	6q27
tui	T047
cui	C3809872

Delete	Subject	Author	Type	Created
No notes to display