Thanatophoric dysplasia type 1

Definition

Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

Also known as TD1, thanatophoric dwarfism type 1, thanatophoric dysplasia, type 1, type 1 thanatophoric dysplasia — per MONDO

Also identified as

• NCIT C98583 per MONDO
• OMIM 187600 per MONDO
• OMIM 270230 per MONDO
• Orphanet 1860 per MONDO
• UMLS C1868678 per MONDO