The ihh gene encodes a hedgehog signaling molecule that is secreted and functions in embryonic patterning. In early development, ihh expression is detected in the ventral mesoderm, gut endoderm, and de...[+]

The ihh gene encodes a hedgehog signaling molecule that is secreted and functions in embryonic patterning. In early development, ihh expression is detected in the ventral mesoderm, gut endoderm, and developing craniofacial structures. Later, it is involved in chondrogenesis and osteogenesis during skeletal development, particularly in the formation of cartilaginous elements and bones of the skull and limbs. It also plays a role in joint formation and digit patterning. [-]

             brachydactyly type A1

          BRACHYDACTYLY, TYPE A1; BDA1

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD