Search Ontology:
Human Disease
ablepharon macrostomia syndrome
- Term ID
- DOID:0060550
- Synonyms
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- 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
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- GARD:3
- MESH:C535557
- MIM:200110
- ORDO:920
- SNOMEDCT_US_2023_03_01:718575002
- UMLS_CUI:C1860224
- Ontology
- Human Disease ( DOID:0060550 )
- is a type of
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Genes Involved
Zebrafish Models