About   Help   FAQ
Disease Ontology Browser
Frank-Ter Haar syndrome (DOID:0111789)
Alliance: disease page
Synonyms: autosomal recessive Melnick-Needles syndrome; Borrone dermatocardioskeletal syndrome; FTHS; megalocornea, multiple skeletal anomalies, and developmental delay; Ter Haar syndrome
Alt IDs: OMIM:249420, MESH:C537274, ORDO:137834, UMLS_CUI:C1855305
Definition: An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
06/23/2022
MGI 6.20
The Jackson Laboratory