Online Mendelian Inheritance in Man - JACKSON-WEISS SYNDROME - Classes

Preferred Name	JACKSON-WEISS SYNDROME
Synonyms	CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES
ID	http://purl.bioontology.org/ontology/OMIM/123150
altLabel	CRANIOSYNOSTOSIS, MIDFACIAL HYPOPLASIA, AND FOOT ABNORMALITIES JWS
cui	C0795998
Gene Locus	10q26
Gene Symbol	TK14 FGFR2 BEK BBDS JWS CFD1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018808 http://purl.bioontology.org/ontology/OMIM/MTHU018810 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU026922 http://purl.bioontology.org/ontology/OMIM/MTHU002205 http://purl.bioontology.org/ontology/OMIM/MTHU018809 http://purl.bioontology.org/ontology/OMIM/MTHU018807 http://purl.bioontology.org/ontology/OMIM/MTHU026921
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	218500
notation	123150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	JACKSON-WEISS SYNDROME
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C537559	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C537559	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/DOID_0111337	Human Disease Ontology 123	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123814	National Cancer Institute Thesaurus	LOOM