Human Gene Set: HP_MADELUNG_DEFORMITY


Standard name HP_MADELUNG_DEFORMITY
Systematic name M47069
Brief description Madelung deformity
Full description or abstract An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. [https://orcid.org/0000-0002-0736-9199, PMID:12362035]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003067
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003067
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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 2024.1.Hs: Updated to HPO Release 2024-04-26.

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