Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/609579 http://purl.bioontology.org/ontology/OMIM/609579
Preferred Name	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Synonyms	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
prefLabel	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Gene Symbol	TK14 JWS BEK CFD1 FGFR2 BBDS See more See less
notation	609579
OMIM MimType Value	pound
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	3
type	http://www.w3.org/2002/07/owl#Class
MIMTYPEMEANING	Phenotype description, molecular basis known.
Gene Locus	10q26
tui	T047
cui	C1865070

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