Term ID: |
8371 |
Name: |
Abnormal metatarsal ossification |
Synonym: |
Abnormal maturation of long bone of foot; Abnormal ossification involving metatarsal bones |
Definition: |
Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. |
Comments: |
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Reference: |
HP:0008371 |
Genes and Diseases: | SELECT DISTINCT 'HP:0008371' 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:0008371' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id)
order by g.distance, gene, DiseaseName; | |