BARBER-SAY SYNDROME

BSS

http://purl.bioontology.org/ontology/OMIM/209885

BSS

HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA

BBRSAY

C1319466

2q37.3

DERMO1

TWIST2

FFDD3

AMS

SETLSS

BBRSAY

http://purl.bioontology.org/ontology/OMIM/MTHU031712

http://purl.bioontology.org/ontology/OMIM/MTHU001542

http://purl.bioontology.org/ontology/OMIM/MTHU031716

http://purl.bioontology.org/ontology/OMIM/MTHU002110

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU001050

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU007401

http://purl.bioontology.org/ontology/OMIM/MTHU031721

http://purl.bioontology.org/ontology/OMIM/MTHU006867

http://purl.bioontology.org/ontology/OMIM/MTHU002945

http://purl.bioontology.org/ontology/OMIM/MTHU001626

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU002115

http://purl.bioontology.org/ontology/OMIM/MTHU003098

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU013802

http://purl.bioontology.org/ontology/OMIM/MTHU013944

http://purl.bioontology.org/ontology/OMIM/MTHU004153

http://purl.bioontology.org/ontology/OMIM/MTHU025962

Phenotype description, molecular basis known.

209885

3

pound

BARBER-SAY SYNDROME

Caused by mutation in the twist family bHLH transcription factor 2 gene (TWIST2, 607556.0005) [MOLECULAR BASIS]

T047