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
..Opposable triphalangeal thumb (HP:0005866)

Term ID:

5866

Name:

Opposable triphalangeal thumb

Synonym:

Definition:

A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.

Comments:

Reference:

HP:0005866

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral triphalangeal thumbs (HP:0005707)

Nonopposable triphalangeal thumb (HP:0005725)

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:0005866	HP:0005866	Opposable triphalangeal thumb	0	LMBR1 CL E G H	64327	13243	OMIM:174500	Polydactyly, preaxial II	HP:0040281 - Very frequent	106

Genes (1) :LMBR1

Diseases (1) :OMIM:174500

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