Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal long bone morphology (HP:0011314)help
Grandparent Node:
expand
Abnormal morphology of the radius (HP:0002818)help
Grandparent Node:
expand
Obsolete Abnormal forearm bone morphology (HP:0040073)help
Parent Node:
expand
Abnormal bone structure (HP:0003330)help
Parent Node:
expand
obsolete Abnormal morphology of the radius (HP:0045009)help
..Starting node
..expand
Radial dysplasia (HP:0006433)help
Term ID: 6433
Name: Radial dysplasia
Synonym: Dysplastic radii; Radial longitudinal deficiency
Definition: 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.
Comments:
Reference: HP:0006433
Genes and Diseases: SELECT DISTINCT 'HP:0006433' AS Input, t2.acc as HPO_ID, t2.name as HPO_term, g.Distance, t1.Entrez_gene AS Gene, t1.Entrez_gene_id AS Gene_id_entrez, t1.HGNC_ID, t1.DiseaseId, t1.DiseaseName, t1.Frequency, t1.Onset #, t1.ConceptID, Source, t1.Typical_association , h.Variants AS HGMD_variants, c.variants AS ClinVar_variants FROM hpo202212.graph_path AS g, hpo202212.term AS t, hpo202212.term AS t2 LEFT JOIN hpo202212.hpo_phenotype_to_genes as t1 ON (t1.HPO = t2.acc) LEFT JOIN gb_exome.clinvar_variation_latest_sum AS c ON ( c.Gene = t1.Entrez_Gene) LEFT JOIN gb_exome.hgmd_allmumt_sum_latest AS h ON (h.gene = t1.Entrez_Gene ) WHERE (t.acc ='HP:0006433' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;