Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	JOUBERT SYNDROME 4
Synonyms	JBTS4
ID	http://purl.bioontology.org/ontology/OMIM/609583
altLabel	JBTS4
cui	C1846790
Gene Locus	2q13
Gene Symbol	SLSN1 JBTS4 NPH1 NPHP1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000629 http://purl.bioontology.org/ontology/OMIM/MTHU000617 http://purl.bioontology.org/ontology/OMIM/MTHU000618 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU000615 http://purl.bioontology.org/ontology/OMIM/MTHU000628 http://purl.bioontology.org/ontology/OMIM/MTHU000619 http://purl.bioontology.org/ontology/OMIM/MTHU000621 http://purl.bioontology.org/ontology/OMIM/MTHU000616 http://purl.bioontology.org/ontology/OMIM/MTHU000614 http://purl.bioontology.org/ontology/OMIM/MTHU000622 http://purl.bioontology.org/ontology/OMIM/MTHU000630 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000620 http://purl.bioontology.org/ontology/OMIM/MTHU000613 http://purl.bioontology.org/ontology/OMIM/MTHU000235
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	609583
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	JOUBERT SYNDROME 4
Scope Statement	Genetic heterogeneity (see JBTS1 213300, JBTS2 608091, JBTS3 608629) [MISCELLANEOUS] Phenotypically mild form of Joubert syndrome [MISCELLANEOUS] Allelic disorder to juvenile nephronophthisis-1 (256100) [MISCELLANEOUS] Caused by deletion in the nephrocystin gene (NPHP1, 607100.0005) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536296	MESH	CUI
http://purl.obolibrary.org/obo/DOID_0110999	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0110999	DOID	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536296	RH-MESH	LOOM
http://identifiers.org/omim/609583	REXO	LOOM
http://identifiers.org/omim/609583	GEXO	LOOM
http://identifiers.org/omim/609583	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_609583	CCO	LOOM
http://purl.obolibrary.org/obo/DOID_0110999	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110999	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0110999	FNS-H	LOOM
http://purl.obolibrary.org/obo/NCIT_C74997	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74997	NCIT	LOOM
http://purl.bioontology.org/ontology/MESH/C536296	MESH	LOOM