Term ID: |
9384 |
Name: |
Cone-shaped epiphyses of the 5th finger |
Synonym: |
Cone-shaped end part of the little finger bones; Cone-shaped end part of the pinkie finger bones; Cone-shaped end part of the pinky finger bones |
Definition: |
A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. |
Comments: |
|
Reference: |
HP:0009384 |
Genes and Diseases: | SELECT DISTINCT 'HP:0009384' 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:0009384' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id)
order by g.distance, gene, DiseaseName; | |