Human Gene Set: HP_RADIAL_RAY_DEFICIENCY


Standard name HP_RADIAL_RAY_DEFICIENCY
Systematic name M50733
Brief description Radial ray deficiency
Full description or abstract Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. [PMID:28603568, PMID:29257019, PMID:3559066]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0006433
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External links https://hpo.jax.org/app/browse/term/HP:0006433
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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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