Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of thumb phalanx (HP:0009602)

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)

Parent Node:
Abnormality of the proximal phalanx of the thumb (HP:0009618)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)

..Starting node
..Aplasia/Hypoplasia of the proximal phalanx of the thumb (HP:0009629)

Term ID:	9629
Name:	Aplasia/Hypoplasia of the proximal phalanx of the thumb
Synonym:	Absent/small innermost thumb bone; Absent/underdeveloped innermost thumb bone
Definition:	This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Comments:
Reference:	HP:0009629
Genes and Diseases:	SELECT DISTINCT 'HP:0009629' 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:0009629' AND g.term1_id = t.id AND g.distance <=20 AND t2.id = g.term2_id) order by g.distance, gene, DiseaseName;