About   Help   FAQ
Disease Ontology Browser
temtamy preaxial brachydactyly syndrome (DOID:0050814)
Alliance: disease page
Synonyms: PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Alt IDs: OMIM:605282, MESH:C536958, ORDO:363417, UMLS_CUI:C1854466
Definition: A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.


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, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory