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 finger phalanx morphology (HP:0005918)

Grandparent Node:
Sclerosis of hand bone (HP:0004054)

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

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

..Starting node
..Sclerosis of 2nd finger phalanx (HP:0100918)

Term ID:

100918

Name:

Sclerosis of 2nd finger phalanx

Synonym:

Increased bone density in 2nd finger bone; Sclerosis of the phalanges of the 2nd finger

Definition:

An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Comments:

Reference:

HP:0100918

Genes and Diseases:

Child Nodes:

........

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

................... HP:0009508 Ivory epiphysis of the distal phalanx of the 2nd finger
................... HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd finger
................... HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd finger

........

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

................... HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger
................... HP:0009573 Patchy sclerosis of the middle phalanx of the 2nd finger
................... HP:0009585 Patchy sclerosis of the proximal phalanx of the 2nd finger

........

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

................... HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger

........

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

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

........

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

................... HP:0009585 Patchy sclerosis of the proximal phalanx of the 2nd finger

Sister Nodes:

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

Patchy sclerosis of finger phalanx (HP:0009772)

Sclerosis of 3rd finger phalanx (HP:0100919)

Sclerosis of 4th finger phalanx (HP:0100920)

Sclerosis of 5th finger phalanx (HP:0100921)

Sclerosis of distal finger phalanx (HP:0100915)

Sclerosis of middle finger phalanx (HP:0100916)

Sclerosis of proximal finger phalanx (HP:0100917)

Sclerosis of thumb phalanx (HP:0100922)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100918	HP:0100918	Sclerosis of 2nd finger phalanx	0	CL E G H
HP:0100918	HP:0100900	Sclerosis of the distal phalanx of the 2nd finger	1	CL E G H
HP:0100918	HP:0009494	Ivory epiphyses of the 2nd finger	1	CL E G H
HP:0100918	HP:0009551	Patchy sclerosis of 2nd finger phalanx	1	CL E G H
HP:0100918	HP:0100908	Sclerosis of the proximal phalanx of the 2nd finger	1	CL E G H
HP:0100918	HP:0100904	Sclerosis of the middle phalanx of the 2nd finger	1	CL E G H
HP:0100918	HP:0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	2	CL E G H
HP:0100918	HP:0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	2	CL E G H
HP:0100918	HP:0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	2	CL E G H
HP:0100918	HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	2	CL E G H
HP:0100918	HP:0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	2	CL E G H
HP:0100918	HP:0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	2	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.

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