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 proximal phalanx morphology of the hand (HP:0009834)

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

Parent Node:
Abnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245)

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

Parent Node:
Sclerosis of proximal finger phalanx (HP:0100917)

..Starting node
..Ivory epiphyses of the proximal phalanges of the hand (HP:0010274)

Term ID:

10274

Name:

Ivory epiphyses of the proximal phalanges of the hand

Synonym:

Increased bone density of end part of the innermost hand bones

Definition:

Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.

Comments:

Reference:

HP:0010274

Genes and Diseases:

Child Nodes:

........

Ivory epiphysis of the proximal phalanx of the 5th finger (HP:0009157)

........

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

........

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

........

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

........

Ivory epiphysis of the 1st metacarpal (HP:0010021)

Sister Nodes:

Patchy sclerosis of proximal phalanx of finger (HP:0009856)

Sclerosis of the 1st metacarpal (HP:0100914)

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

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

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

Sclerosis of the proximal phalanx of the 5th finger (HP:0100911)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010274	HP:0010274	Ivory epiphyses of the proximal phalanges of the hand	0	CL E G H
HP:0010274	HP:0010021	Ivory epiphysis of the 1st metacarpal	1	CL E G H
HP:0010274	HP:0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	1	CL E G H
HP:0010274	HP:0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	1	CL E G H
HP:0010274	HP:0009267	Ivory epiphysis of the proximal phalanx of the 4th finger	1	CL E G H
HP:0010274	HP:0009157	Ivory epiphysis of the proximal phalanx of the 5th 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.