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- Baf7e0b1730c2cc72370fda77669afdef hasDbXref "Orphanet:2655" @default.
- Baf7e0b1730c2cc72370fda77669afdef type Axiom @default.
- Baf7e0b1730c2cc72370fda77669afdef annotatedProperty IAO_0000115 @default.
- Baf7e0b1730c2cc72370fda77669afdef annotatedSource MONDO_0017042 @default.
- Baf7e0b1730c2cc72370fda77669afdef annotatedTarget "Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape." @default.