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 middle phalanx morphology of the hand (HP:0009833)

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

Parent Node:
Patchy sclerosis of finger phalanx (HP:0009772)

Parent Node:
Sclerosis of middle finger phalanx (HP:0100916)

..Starting node
..Patchy sclerosis of middle phalanx of finger (HP:0009848)

Term ID:

9848

Name:

Patchy sclerosis of middle phalanx of finger

Synonym:

Patchy sclerosis of the middle phalanges of the hand; Uneven increase in bone density in the middle finger bones of the hand

Definition:

Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.

Comments:

Reference:

HP:0009848

Genes and Diseases:

Child Nodes:

........

Patchy sclerosis of the middle phalanx of the 5th finger (HP:0009175)

........

Patchy sclerosis of the middle phalanx of the 4th finger (HP:0009307)

........

Patchy sclerosis of the middle phalanx of the 3rd finger (HP:0009434)

........

Patchy sclerosis of the middle phalanx of the 2nd finger (HP:0009573)

........

Patchy sclerosis of the proximal phalanx of the thumb (HP:0009634)

Sister Nodes:

Ivory epiphyses of the middle phalanges of the hand (HP:0010263)

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

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

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

Sclerosis of the middle phalanx of the 5th finger (HP:0100907)

Sclerosis of the proximal phalanx of the thumb (HP:0100913)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009848	HP:0009848	Patchy sclerosis of middle phalanx of finger	0	CL E G H
HP:0009848	HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	1	CL E G H
HP:0009848	HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	1	CL E G H
HP:0009848	HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	1	CL E G H
HP:0009848	HP:0009307	Patchy sclerosis of the middle phalanx of the 4th finger	1	CL E G H
HP:0009848	HP:0009175	Patchy sclerosis of the middle 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.