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Thanatophoric Dysplasia, Type I MeSH Supplementary Concept Data 2024


MeSH Supplementary
Thanatophoric Dysplasia, Type I
Unique ID
C566844
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C566844
Entry Term(s)
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
Registry Number
0
Heading Mapped to
*Thanatophoric Dysplasia
Receptor, Fibroblast Growth Factor, Type 3 / *deficiency
Frequency
20
Note
aka TD1; mutations in FGFR3
Date of Entry
2012/11/05
Revision Date
2014/06/02
Thanatophoric Dysplasia, Type I Preferred
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