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:
Abnormality of the phalanges of the 2nd finger (HP:0009541)

Grandparent Node:
Sclerosis of finger phalanx (HP:0100899)

Parent Node:
Abnormality of the epiphyses of the 2nd finger (HP:0006263)

Parent Node:
Ivory epiphyses of the phalanges of the hand (HP:0010234)

Parent Node:
Sclerosis of 2nd finger phalanx (HP:0100918)

..Starting node
..Ivory epiphyses of the 2nd finger (HP:0009494)

Term ID:

9494

Name:

Ivory epiphyses of the 2nd finger

Synonym:

Increased bone density of end part of the index finger bone

Definition:

Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.

Comments:

Reference:

HP:0009494

Genes and Diseases:

Child Nodes:

........

Ivory epiphysis of the distal phalanx of the 2nd finger (HP:0009508)

........

Ivory epiphysis of the middle phalanx of the 2nd finger (HP:0009519)

........

Ivory epiphysis of the proximal phalanx of the 2nd finger (HP:0009530)

Sister Nodes:

Patchy sclerosis of 2nd finger phalanx (HP:0009551)

Sclerosis of the distal phalanx of the 2nd finger (HP:0100900)

Sclerosis of the middle phalanx of the 2nd finger (HP:0100904)

Sclerosis of the proximal phalanx of the 2nd finger (HP:0100908)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009494	HP:0009494	Ivory epiphyses of the 2nd finger	0	CL E G H
HP:0009494	HP:0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	1	CL E G H
HP:0009494	HP:0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	1	CL E G H
HP:0009494	HP:0009530	Ivory epiphysis of the 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.