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 4th finger phalanx morphology (HP:0009172)

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

Parent Node:
Abnormality of the epiphyses of the 4th finger (HP:0009174)

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

Parent Node:
Sclerosis of 4th finger phalanx (HP:0100920)

..Starting node
..Ivory epiphyses of the 4th finger (HP:0009399)

Term ID:

9399

Name:

Ivory epiphyses of the 4th finger

Synonym:

Increased bone density of end part of the ring finger bone

Definition:

Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.

Comments:

Reference:

HP:0009399

Genes and Diseases:

Child Nodes:

........

Ivory epiphysis of the middle phalanx of the 4th finger (HP:0009220)

........

Ivory epiphysis of the distal phalanx of the 4th finger (HP:0009256)

........

Ivory epiphysis of the proximal phalanx of the 4th finger (HP:0009267)

Sister Nodes:

Patchy sclerosis of 4th finger phalanx (HP:0009406)

Sclerosis of the distal phalanx of the 4th finger (HP:0100902)

Sclerosis of the middle phalanx of the 4th finger (HP:0100906)

Sclerosis of the proximal phalanx of the 4th finger (HP:0100910)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009399	HP:0009399	Ivory epiphyses of the 4th finger	0	CL E G H
HP:0009399	HP:0009256	Ivory epiphysis of the distal phalanx of the 4th finger	1	CL E G H
HP:0009399	HP:0009220	Ivory epiphysis of the middle phalanx of the 4th finger	1	CL E G H
HP:0009399	HP:0009267	Ivory epiphysis of the proximal phalanx of the 4th 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.