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 2nd finger (HP:0009468)

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

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

Term ID:

9467

Name:

Radial deviation of the 2nd finger

Synonym:

Radially deviated index finger

Definition:

Displacement of the 2nd finger towards the radial side.

Comments:

Reference:

HP:0009467

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hitchhiker thumb (HP:0001234)

obsolete Radial deviation of the thumb (HP:0040021)

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

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:0009467	HP:0009467	Radial deviation of the 2nd finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0009467	HP:0009467	Radial deviation of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0009467	HP:0009467	Radial deviation of the 2nd finger	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0009467	HP:0009467	Radial deviation of the 2nd finger	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0009467	HP:0009467	Radial deviation of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0009467	HP:0009467	Radial deviation of the 2nd finger	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1	.	44
HP:0009467	HP:0009467	Radial deviation of the 2nd finger	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6

Genes (7) :BMP2 BMPR1B CANT1 FLNA GDF5 IHH TGDS

Diseases (5) :OMIM:112600 OMIM:251450 OMIM:304120 OMIM:112500 ORPHA:1388

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