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:
Abnormal finger phalanx morphology (HP:0005918)

Parent Node:
Abnormal distal phalanx morphology of finger (HP:0009832)

Parent Node:
Curved phalanges of the hand (HP:0009770)

..Starting node
..Curved distal phalanges of the hand (HP:0009838)

Term ID:

9838

Name:

Curved distal phalanges of the hand

Synonym:

Curved outermost finger bone of the hand

Definition:

Comments:

Reference:

HP:0009838

Genes and Diseases:

Child Nodes:

........

Curved distal phalanx of the 5th finger (HP:0004226)

........

Curved distal phalanx of the 4th finger (HP:0009286)

........

Curved distal phalanx of the 3rd finger (HP:0009428)

........

Curved distal phalanx of the 2nd finger (HP:0009560)

........

Curved distal phalanx of the thumb (HP:0009644)

Sister Nodes:

Curved middle phalanges of the hand (HP:0009846)

Curved phalanges of the 2nd finger (HP:0009549)

Curved phalanges of the 3rd finger (HP:0009442)

Curved phalanges of the 4th finger (HP:0009285)

Curved phalanges of the 5th finger (HP:0004214)

Curved proximal phalanges of the hand (HP:0009854)

Curved thumb phalanx (HP:0009653)

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:0009838	HP:0009838	Curved distal phalanges of the hand	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	124
HP:0009838	HP:0009838	Curved distal phalanges of the hand	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	26
HP:0009838	HP:0009644	Curved distal phalanx of the thumb	1	CL E G H
HP:0009838	HP:0009560	Curved distal phalanx of the 2nd finger	1	CL E G H
HP:0009838	HP:0009428	Curved distal phalanx of the 3rd finger	1	CL E G H
HP:0009838	HP:0009286	Curved distal phalanx of the 4th finger	1	CL E G H
HP:0009838	HP:0004226	Curved distal phalanx of the 5th finger	1	CL E G H

Genes (2) :LRP4 SOST

Diseases (1) :ORPHA:3152

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