Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614974 http://purl.bioontology.org/ontology/OMIM/614974
Preferred Name	FOCAL FACIAL DERMAL DYSPLASIA 4
Synonyms	FFDD4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FFDD4
prefLabel	FOCAL FACIAL DERMAL DYSPLASIA 4
Gene Symbol	CYP26C1 FFDD4
Scope Statement	Caused by mutation in the cytochrome P450, subfamily XXVIC, polypeptide 1 gene (CYP26C1, 608428.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU043450 http://purl.bioontology.org/ontology/OMIM/MTHU069501 http://purl.bioontology.org/ontology/OMIM/MTHU069500 http://purl.bioontology.org/ontology/OMIM/MTHU043453
tui	T047
Gene Locus	10q23.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614974
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554246
OMIM Entry Type	3
OMIM MimType Value	pound

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