OBO ID: DOID:0110965
Term Name: brachydactyly type A2 Search Ontology:
Synonyms:
  • BDA2
  • brachymesophalangy II
  • Mohr-Wriedt type brachydactyly
Definition: A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (3)
References:
Ontology: Human Disease   (DOID:0110965)
Relationships
is a type of:
OTHER brachydactyly type A2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BMP2 Brachydactyly, type A2 112600
BMPR1B Brachydactyly, type A2 112600
GDF5 Brachydactyly, type A2 112600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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