OBO ID: DOID:0110970
Term Name: brachydactyly type C Search Ontology:
Synonyms:
  • BDC
Definition: A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. https://www.ncbi.nlm.nih.gov/pubmed/9288091
References:
  • GARD:986
  • MESH:C537093
  • OMIM:113100
  • ORDO:93384
  • SNOMEDCT_US_2023_03_01:389169005
  • UMLS_CUI:C1300268
  • UMLS_CUI:C1862103
Ontology: Human Disease   ( DOID:0110970 )
Relationships
is a type of:
OTHER brachydactyly type C PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GDF5 Brachydactyly, type C 113100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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