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A primary bone dysplasia with micromelia 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.

Synonyms: TD

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

OMIM:187600

OMIM:187601

ICD-10:Q77.1

MedDRA:10049808

OMIM:156830

UMLS:C0039743

notation

ORPHA:2655