Online Mendelian Inheritance in Man - JOUBERT SYNDROME 7 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/611560 http://purl.bioontology.org/ontology/OMIM/611560
Preferred Name	JOUBERT SYNDROME 7
Synonyms	JBTS7
Type	http://www.w3.org/2002/07/owl#Class

altLabel	JBTS7
prefLabel	JOUBERT SYNDROME 7
Gene Symbol	RPGRIP1L JBTS7 MKS5 COACH3 KIAA1005
Scope Statement	Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, 610937.0001) [MOLECULAR BASIS] See also Meckel syndrome type 5 (611561), an allelic disorder with a more severe phenotype [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Variable phenotype [MISCELLANEOUS] Renal phenotype worsens with age [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000629 http://purl.bioontology.org/ontology/OMIM/MTHU001998 http://purl.bioontology.org/ontology/OMIM/MTHU002514 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU041788 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU002508 http://purl.bioontology.org/ontology/OMIM/MTHU002503 http://purl.bioontology.org/ontology/OMIM/MTHU002504 http://purl.bioontology.org/ontology/OMIM/MTHU000628 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU002501 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU041789 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU041786 http://purl.bioontology.org/ontology/OMIM/MTHU001994 http://purl.bioontology.org/ontology/OMIM/MTHU002500 http://purl.bioontology.org/ontology/OMIM/MTHU041787 http://purl.bioontology.org/ontology/OMIM/MTHU002502 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU002507 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU001995 http://purl.bioontology.org/ontology/OMIM/MTHU002505 See more See less
tui	T047
Gene Locus	16q12.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611560
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1969053
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display