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Q51905478-5B10536D-51EF-46B4-ABAD-6BDC882A3714
Q51905478-5B10536D-51EF-46B4-ABAD-6BDC882A3714
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51905478-5B10536D-51EF-46B4-ABAD-6BDC882A3714
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
P2860
Q51905478-5B10536D-51EF-46B4-ABAD-6BDC882A3714
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51905478-5B10536D-51EF-46B4-ABAD-6BDC882A3714
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
c4f9c2c0e2659a1263d3770f9646ae84dcbe110c
P2860
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2