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Metadata
ID	DOID:0060550
Name	ablepharon macrostomia syndrome
Definition	A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/, https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/27196381
Xrefs	GARD:3 MESH:C535557 MIM:200110 ORDO:920 SNOMEDCT_US_2023_03_01:718575002 UMLS_CUI:C1860224
Subsets	DO_rare_slim
Parent Relationships	is_a syndrome is_a autosomal dominant disease