Search Ontology:
Human Disease

temtamy preaxial brachydactyly syndrome

Term ID
DOID:0050814
Synonyms
  • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
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. (3)
References
Ontology
Human Disease   ( DOID:0050814 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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