Human Phenotype Ontology

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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:
Abnormal hallux phalanx morphology (HP:0010057)

Grandparent Node:
Broad phalanx of the toes (HP:0010174)

Parent Node:
Abnormality of the distal phalanx of the hallux (HP:0010053)

Parent Node:
Broad distal phalanx of the toes (HP:0010186)

Parent Node:
Broad hallux phalanx (HP:0010059)

..Starting node
..Broad distal phalanx of the hallux (HP:0010077)

Term ID:

10077

Name:

Broad distal phalanx of the hallux

Synonym:

Broad outermost bone of big toe; Wide outermost bone of big toe

Definition:

An increase in width of the distal phalanx of the big toe.

Comments:

Reference:

HP:0010077

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad proximal phalanx of the hallux (HP:0010086)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010077	HP:0010077	Broad distal phalanx of the hallux	0	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D	.	25

Genes (1) :HOXD13

Diseases (1) :OMIM:113200

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.