ZFIN Human Disease: ablepharon macrostomia syndrome

OBO ID: DOID:0060550

Term Name:	ablepharon macrostomia syndrome		Search Ontology:
Synonyms:	poikiloderma with neutropenia, Clericuzio type
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. (3)
References:	GARD:3 MESH:C535557 OMIM:200110 ORDO:920 SNOMEDCT_US_2023_03_01:718575002 UMLS_CUI:C1860224
Ontology:	Human Disease ( DOID:0060550 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TWIST2	twist2	Ablepharon-macrostomia syndrome	200110

ZEBRAFISH MODELS

Fish	Conditions	Citations
twist2^{zf3421/zf3421} (AB)	standard conditions	Zhao et al., 2020
AB + MO4-usb1	control	Colombo et al., 2015

PHENOTYPE No data available

CITATIONS (3)