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Bone Fragility with Contractures, Arterial Rupture, and Deafness MeSH Supplementary Concept Data 2024


MeSH Supplementary
Bone Fragility with Contractures, Arterial Rupture, and Deafness
Unique ID
C567320
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C567320
Entry Term(s)
LH3 Deficiency
Lysyl Hydroxylase 3 Deficiency
Registry Number
0
Heading Mapped to
Arteries / *abnormalities
Bone and Bones / *abnormalities
*Connective Tissue Diseases
*Contracture
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / *deficiency
*Rupture, Spontaneous
Frequency
1
Note
mutation in PLOD3
Date of Entry
2012/11/05
Revision Date
2013/11/06
Bone Fragility with Contractures, Arterial Rupture, and Deafness Preferred
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