bone fragility with contractures, arterial rupture, and deafness

Preferred Label : bone fragility with contractures, arterial rupture, and deafness;

MeSH note : mutation in PLOD3;

MeSH synonym : lysyl hydroxylase 3 deficiency; LH3 deficiency;

Details

Origin ID

C567320;

UMLS CUI

C2676285;

Currated CISMeF NLP mapping
- Bcard syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- arteries [MeSH Descriptor]
- bone and bones [MeSH Descriptor]
- connective tissue diseases [MeSH Descriptor]
- contracture [MeSH Descriptor]
- procollagen-lysine, 2-oxoglutarate 5-dioxygenase [MeSH Descriptor]
- rupture, spontaneous [MeSH Descriptor]
Record concept(s)
- bone fragility with contractures, arterial rupture, and deafness [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bcard syndrome [OMIM Phenotype]
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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