brachydactyly type A2

Term ID

DOID:0110965

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

• GARD:979
• MESH:C537089
• OMIM:112600
• ORDO:93396
• SNOMEDCT_US_2023_03_01:720569006
• UMLS_CUI:C1832702

Ontology

Human Disease   ( DOID:0110965 )