About   Help   FAQ
Disease Ontology Browser
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (DOID:0112358)
Alliance: disease page
Synonyms: 'SSFSC'
Alt IDs: OMIM:619184
Definition: A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in SCUBE3 on chromosome 6p21.31.


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