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Thanatophoric dysplasia type 1

MONDO:0008546

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, PLSD San Diego type, Platyspondylic lethal skeletal dysplasia, San Diego type, lethal short-limbed Platyspondylic dwarfism, San Diego type, thanatophoric dwarfism

0 clinical trials for this condition and its sub-types, 0 tagged with Thanatophoric dysplasia type 1 itself.

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↑ Autosomal dominant disease (699) ↑ Thanatophoric dysplasia (0)

Including sub-types (0) Tagged with Thanatophoric dysplasia type 1 (0)

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