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:
Abnormality of thumb phalanx (HP:0009602)

Parent Node:
Triphalangeal thumb (HP:0001199)

..Starting node
..Bilateral triphalangeal thumbs (HP:0005707)

Term ID:

5707

Name:

Bilateral triphalangeal thumbs

Synonym:

Bilateral digitalized thumb

Definition:

A bilateral form of triphalangeal thumb.

Comments:

Reference:

HP:0005707

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonopposable triphalangeal thumb (HP:0005725)

Opposable triphalangeal thumb (HP:0005866)

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:0005707	HP:0005707	Bilateral triphalangeal thumbs	0	ATP6V1B2 CL E G H	526	854	OMIM:124480	Deafness, congenital, and onychodystrophy, autosomal dominant		5
HP:0005707	HP:0005707	Bilateral triphalangeal thumbs	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0005707	HP:0005707	Bilateral triphalangeal thumbs	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0005707	HP:0005707	Bilateral triphalangeal thumbs	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0005707	HP:0005707	Bilateral triphalangeal thumbs	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS

Genes (5) :ATP6V1B2 FGF10 FGFR2 FGFR3 PIGF

Diseases (3) :OMIM:124480 OMIM:149730 OMIM:619356

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