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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)
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last database update
07/02/2024
MGI 6.13
The Jackson Laboratory