Human Gene Set: HP_CONGENITAL_PSEUDOARTHROSIS_OF_THE_CLAVICLE


Standard name HP_CONGENITAL_PSEUDOARTHROSIS_OF_THE_CLAVICLE
Systematic name M50737
Brief description Congenital pseudoarthrosis of the clavicle
Full description or abstract The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. [https://orcid.org/0000-0002-0736-9199, PMID:22295044]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0006585
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External links https://hpo.jax.org/app/browse/term/HP:0006585
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2026.1.Hs: Updated to HPO Release 2026-01-08.


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