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:
Abnormality of thumb phalanx (HP:0009602)

Parent Node:
Curved fingers (HP:0004095)

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

..Starting node
..Curved thumb phalanx (HP:0009653)

Term ID:

9653

Name:

Curved thumb phalanx

Synonym:

Curved phalanges of the thumb; Curved thumb bone

Definition:

A deviation from the normal straight shape of a thumb phalanx.

Comments:

Reference:

HP:0009653

Genes and Diseases:

Child Nodes:

........

Curved proximal phalanx of the thumb (HP:0009632)

........

Curved distal phalanx of the thumb (HP:0009644)

Sister Nodes:

Curved distal phalanges of the hand (HP:0009838)

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)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009653	HP:0009653	Curved thumb phalanx	0	CL E G H
HP:0009653	HP:0009644	Curved distal phalanx of the thumb	1	CL E G H
HP:0009653	HP:0009632	Curved proximal phalanx of the thumb	1	CL E G H

Genes (0) :

Diseases (0) :

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