OBO ID: DOID:0050814
Term Name: temtamy preaxial brachydactyly syndrome Search Ontology:
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)
OTHER temtamy preaxial brachydactyly syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHSY1 Temtamy preaxial brachydactyly syndrome 605282
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)