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Thanatophoric dysplasia type 1

rare

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

Identifiers
MONDO:0008546 OMIM:187600OMIM:270230Orphanet:1860
Part of
Autosomal dominant diseaseThanatophoric dysplasia
Also known as
PLSD San Diego type · TD1 · thanatophoric dwarfism 1 · thanatophoric dwarfism type 1 · thanatophoric dysplasia type I

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