FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term ablepharon macrostomia syndrome ID (Ontology) DOID:0060550 (Human Disease)
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.
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 Genes
 ablepharon macrostomia syndrome       1
 for disease ribbon | ablepharon macrostomia syndrome       1
 model of | ablepharon macrostomia syndrome       1
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                ablepharon macrostomia syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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GARD:3
MESH:C535557
MIM:200110
ORDO:920
SNOMEDCT_US_2023_03_01:718575002
UMLS_CUI:C1860224