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:
Deviation of finger (HP:0004097)

Grandparent Node:
Radial deviation of the hand or of fingers of the hand (HP:0009485)

Parent Node:
Deviation of the 3rd finger (HP:0009317)

Parent Node:
Radial deviation of finger (HP:0009466)

..Starting node
..Radial deviation of the 3rd finger (HP:0009462)

Term ID:

9462

Name:

Radial deviation of the 3rd finger

Synonym:

Inward turned middle finger

Definition:

Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).

Comments:

Reference:

HP:0009462

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hitchhiker thumb (HP:0001234)

obsolete Radial deviation of the thumb (HP:0040021)

Radial deviation of the 2nd finger (HP:0009467)

Radial deviation of the 4th finger (HP:0009279)

Radial deviation of the 5th finger (HP:0040020)

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:0009462	HP:0009462	Radial deviation of the 3rd finger	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0009462	HP:0009462	Radial deviation of the 3rd finger	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0009462	HP:0009462	Radial deviation of the 3rd finger	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0009462	HP:0009462	Radial deviation of the 3rd finger	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44

Genes (4) :FGF10 FGFR2 FGFR3 IHH

Diseases (2) :OMIM:149730 OMIM:112500

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