Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614209 http://purl.bioontology.org/ontology/OMIM/614209
Preferred Name	MECKEL SYNDROME, TYPE 9
Synonyms	MKS9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MKS9
prefLabel	MECKEL SYNDROME, TYPE 9
Gene Symbol	JBTS27 B9D1 MKSR1 MKS9
Scope Statement	Perinatal lethal [MISCELLANEOUS] Caused by mutation in the B9 domain-containing protein 1 gene (B9D1, 614144.0001) [MOLECULAR BASIS] One patient has been reported (last curated April 2015) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044189 http://purl.bioontology.org/ontology/OMIM/MTHU022917 http://purl.bioontology.org/ontology/OMIM/MTHU004124 http://purl.bioontology.org/ontology/OMIM/MTHU001802 http://purl.bioontology.org/ontology/OMIM/MTHU050682 http://purl.bioontology.org/ontology/OMIM/MTHU037208 http://purl.bioontology.org/ontology/OMIM/MTHU049651 See more See less
tui	T047
Gene Locus	17p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614209
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3280155
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display