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:
Abnormal 3rd finger phalanx morphology (HP:0009316)

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

..Starting node
..Sclerosis of 3rd finger phalanx (HP:0100919)

Term ID:

100919

Name:

Sclerosis of 3rd finger phalanx

Synonym:

Increased bone density in middle finger bone; Sclerosis of the phalanges of the 3rd finger

Definition:

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

Comments:

Reference:

HP:0100919

Genes and Diseases:

Child Nodes:

........

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

................... HP:0009327 Ivory epiphysis of the middle phalanx of the 3rd finger
................... HP:0009341 Ivory epiphysis of the distal phalanx of the 3rd finger
................... HP:0009352 Ivory epiphysis of the proximal phalanx of the 3rd finger

........

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

................... HP:0009425 Patchy sclerosis of the distal phalanx of the 3rd finger
................... HP:0009434 Patchy sclerosis of the middle phalanx of the 3rd finger
................... HP:0009454 Patchy sclerosis of the proximal phalanx of the 3rd finger

........

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

................... HP:0009425 Patchy sclerosis of the distal phalanx of the 3rd finger

........

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

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

........

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

................... HP:0009454 Patchy sclerosis of the proximal phalanx of the 3rd finger

Sister Nodes:

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

Patchy sclerosis of finger phalanx (HP:0009772)

Sclerosis of 2nd finger phalanx (HP:0100918)

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:0100919	HP:0100919	Sclerosis of 3rd finger phalanx	0	CL E G H
HP:0100919	HP:0100909	Sclerosis of the proximal phalanx of the 3rd finger	1	CL E G H
HP:0100919	HP:0009416	Ivory epiphyses of the 3rd finger	1	CL E G H
HP:0100919	HP:0100905	Sclerosis of the middle phalanx of the 3rd finger	1	CL E G H
HP:0100919	HP:0100901	Sclerosis of the distal phalanx of the 3rd finger	1	CL E G H
HP:0100919	HP:0009444	Patchy sclerosis of 3rd finger phalanx	1	CL E G H
HP:0100919	HP:0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	2	CL E G H
HP:0100919	HP:0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	2	CL E G H
HP:0100919	HP:0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	2	CL E G H
HP:0100919	HP:0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	2	CL E G H
HP:0100919	HP:0009327	Ivory epiphysis of the middle phalanx of the 3rd finger	2	CL E G H
HP:0100919	HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd 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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