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 proximal phalanx morphology of the hand (HP:0009834)

Parent Node:
Bullet-shaped phalanges of the hand (HP:0009769)

..Starting node
..Bullet-shaped proximal phalanges of the hand (HP:0009853)

Term ID:

9853

Name:

Bullet-shaped proximal phalanges of the hand

Synonym:

Bullet-shaped innermost finger bones of the hand

Definition:

Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.

Comments:

Reference:

HP:0009853

Genes and Diseases:

Child Nodes:

........

Bullet-shaped proximal phalanx of the 5th finger (HP:0009228)

........

Bullet-shaped proximal phalanx of the 4th finger (HP:0009311)

........

Bullet-shaped proximal phalanx of the 3rd finger (HP:0009451)

........

Bullet-shaped proximal phalanx of the 2nd finger (HP:0009582)

Sister Nodes:

Bullet-shaped distal phalanges of the hand (HP:0009837)

Bullet-shaped middle phalanges of the hand (HP:0009845)

Bullet-shaped phalanges of the 2nd finger (HP:0009548)

Bullet-shaped phalanges of the 3rd finger (HP:0009441)

Bullet-shaped phalanges of the 4th finger (HP:0009405)

Bullet-shaped phalanges of the 5th finger (HP:0009375)

Bullet-shaped thumb phalanx (HP:0009652)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009853	HP:0009853	Bullet-shaped proximal phalanges of the hand	0	CL E G H
HP:0009853	HP:0009451	Bullet-shaped proximal phalanx of the 3rd finger	1	CL E G H
HP:0009853	HP:0009311	Bullet-shaped proximal phalanx of the 4th finger	1	CL E G H
HP:0009853	HP:0009228	Bullet-shaped proximal phalanx of the 5th finger	1	CL E G H
HP:0009853	HP:0009582	Bullet-shaped proximal phalanx of the 2nd finger	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.