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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

OMIM: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

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