OBO ID: DOID:0081122
Term Name: Catel Manzke syndrome Search Ontology:
Synonyms:
  • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
  • Micrognathia digital syndrome
Definition: A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. https://pubmed.ncbi.nlm.nih.gov/18501694/
References:
Ontology: Human Disease   ( DOID:0081122 )
Relationships
is a type of:
OTHER Catel Manzke syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGDS Catel-Manzke syndrome 616145
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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