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 3rd finger phalanx morphology (HP:0009316)

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

Parent Node:
Abnormality of the epiphyses of the 3rd finger (HP:0009320)

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

Parent Node:
Sclerosis of 3rd finger phalanx (HP:0100919)

..Starting node
..Ivory epiphyses of the 3rd finger (HP:0009416)

Term ID:

9416

Name:

Ivory epiphyses of the 3rd finger

Synonym:

Increased bone density of end part of the middle finger bone

Definition:

Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.

Comments:

Reference:

HP:0009416

Genes and Diseases:

Child Nodes:

........

Ivory epiphysis of the middle phalanx of the 3rd finger (HP:0009327)

........

Ivory epiphysis of the distal phalanx of the 3rd finger (HP:0009341)

........

Ivory epiphysis of the proximal phalanx of the 3rd finger (HP:0009352)

Sister Nodes:

Patchy sclerosis of 3rd finger phalanx (HP:0009444)

Sclerosis of the distal phalanx of the 3rd finger (HP:0100901)

Sclerosis of the middle phalanx of the 3rd finger (HP:0100905)

Sclerosis of the proximal phalanx of the 3rd finger (HP:0100909)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009416	HP:0009416	Ivory epiphyses of the 3rd finger	0	CL E G H
HP:0009416	HP:0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	1	CL E G H
HP:0009416	HP:0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	1	CL E G H
HP:0009416	HP:0009327	Ivory epiphysis of the middle phalanx of the 3rd 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.