Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 epiphysis morphology of the phalanges of the hand (HP:0005920)

Grandparent Node:
Abnormal hand bone ossification (HP:0010660)

Grandparent Node:
Epiphyseal stippling (HP:0010655)

Parent Node:
Abnormality of the epiphyses of the 2nd finger (HP:0006263)

Parent Node:
Epiphyseal stippling of finger phalanges (HP:0010237)

..Starting node
..Stippling of the epiphyses of the 2nd finger (HP:0009497)

Term ID:

9497

Name:

Stippling of the epiphyses of the 2nd finger

Synonym:

Speckled calcifications in end part of the index finger

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.

Comments:

Reference:

HP:0009497

Genes and Diseases:

Child Nodes:

........

Stippling of the epiphysis of the distal phalanx of the 2nd finger (HP:0009511)

........

Stippling of the epiphysis of the middle phalanx of the 2nd finger (HP:0009522)

........

Stippling of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009533)

Sister Nodes:

Stippling of the epiphyses of the 3rd finger (HP:0009419)

Stippling of the epiphyses of the 4th finger (HP:0009402)

Stippling of the epiphyses of the 5th finger (HP:0009391)

Stippling of the epiphyses of the distal phalanges of the hand (HP:0010255)

Stippling of the epiphyses of the middle phalanges of the hand (HP:0010266)

Stippling of the epiphyses of the proximal phalanges of the hand (HP:0010277)

Stippling of thumb epiphysis (HP:0009695)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009497	HP:0009497	Stippling of the epiphyses of the 2nd finger	0	CL E G H
HP:0009497	HP:0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	1	CL E G H
HP:0009497	HP:0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	1	CL E G H
HP:0009497	HP:0009511	Stippling of the epiphysis of the distal phalanx of the 2nd 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.