Online Mendelian Inheritance in Man - BARBER-SAY SYNDROME - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/209885 http://purl.bioontology.org/ontology/OMIM/209885
Preferred Name	BARBER-SAY SYNDROME
Synonyms	BSS HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA BBRSAY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BSS HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA BBRSAY
prefLabel	BARBER-SAY SYNDROME
Gene Symbol	DERMO1 AMS BBRSAY FFDD3 SETLSS TWIST2 See more See less
Scope Statement	Caused by mutation in the twist family bHLH transcription factor 2 gene (TWIST2, 607556.0005) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU001050 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU031716 http://purl.bioontology.org/ontology/OMIM/MTHU001542 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU007401 http://purl.bioontology.org/ontology/OMIM/MTHU006867 http://purl.bioontology.org/ontology/OMIM/MTHU001626 http://purl.bioontology.org/ontology/OMIM/MTHU031721 http://purl.bioontology.org/ontology/OMIM/MTHU004153 http://purl.bioontology.org/ontology/OMIM/MTHU002115 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU013802 http://purl.bioontology.org/ontology/OMIM/MTHU003098 http://purl.bioontology.org/ontology/OMIM/MTHU013944 http://purl.bioontology.org/ontology/OMIM/MTHU025962 http://purl.bioontology.org/ontology/OMIM/MTHU031712 http://purl.bioontology.org/ontology/OMIM/MTHU002110 See more See less
tui	T047
Gene Locus	2q37.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	209885
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1319466
OMIM Entry Type	3
OMIM MimType Value	pound

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