Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	JACKSON-WEISS SYNDROME
Synonyms	JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
ID	http://purl.bioontology.org/ontology/OMIM/123150
altLabel	JWS CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
cui	C0795998
Gene Locus	10q26
Gene Symbol	TK14 JWS BEK CFD1 FGFR2 BBDS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018809 http://purl.bioontology.org/ontology/OMIM/MTHU018810 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU018808 http://purl.bioontology.org/ontology/OMIM/MTHU018807
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	218500
notation	123150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	JACKSON-WEISS SYNDROME
Scope Statement	Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0007) [MOLECULAR BASIS] Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0001) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/709105005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/C537559	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/709105005	SNOMEDCT	CUI
http://purl.obolibrary.org/obo/DOID_0111337	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0007400	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007400	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	DOID	LOOM
http://purl.obolibrary.org/obo/OMIM_123150	CCO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48950	OCHV	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123814	NCIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795998	OCHV	LOOM
http://www.orpha.net/ORDO/Orphanet_1540	ORDO	LOOM
http://identifiers.org/omim/123150	REXO	LOOM
http://identifiers.org/omim/123150	GEXO	LOOM
http://identifiers.org/omim/123150	RETO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007400	DOVES	LOOM
http://purl.bioontology.org/ontology/MESH/C537559	MESH	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537559	RH-MESH	LOOM
http://www.gamuts.net/entity#Jackson_Weiss_syndrome	GAMUTS	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1699	HRDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/709105005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/NCIT_C123814	BERO	LOOM
http://purl.org/skeletome/bonedysplasia#Jackson-Weiss_syndrome	BDO	LOOM