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:
Ulnar deviation of the hand or of fingers of the hand (HP:0001193)

Parent Node:
Deviation of the 2nd finger (HP:0009468)

Parent Node:
Ulnar deviation of finger (HP:0009465)

..Starting node
..Ulnar deviation of the 2nd finger (HP:0009464)

Term ID:

9464

Name:

Ulnar deviation of the 2nd finger

Synonym:

Medially deviated index finger; Second finger ulnar deviation; Ulnar angulation of the index finger; Ulnar deviation of index fingers

Definition:

Displacement of the 2nd (index) finger towards the ulnar side.

Comments:

Reference:

HP:0009464

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ulnar deviation of the 3rd finger (HP:0009463)

Ulnar deviation of the 4th finger (HP:0009278)

Ulnar deviation of the 5th finger (HP:0009180)

Ulnar deviation of thumb (HP:0006156)

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:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	GDF5 CL E G H	8200	4220	OMIM:113100	Brachydactyly, type C	HP:0040282 - Frequent	52
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0009464	HP:0009464	Ulnar deviation of the 2nd finger	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.	6

Genes (7) :ANKRD11 BMP2 BMPR1B GDF5 HOXA13 PTRH2 TGDS

Diseases (6) :OMIM:148050 OMIM:112600 OMIM:113100 OMIM:140000 ORPHA:456312 OMIM:616145

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