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

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

Parent Node:
Abnormality of the epiphysis of the 1st metacarpal (HP:0010014)

Parent Node:
Epiphyseal stippling of the metacarpals (HP:0009195)

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

..Starting node
..Epiphyseal stippling of the first metacarpal (HP:0010024)

Term ID:

10024

Name:

Epiphyseal stippling of the first metacarpal

Synonym:

Speckled calcifications in the end part of the first long bone of hand; Stippling of the epiphysis of the 1st metacarpal

Definition:

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.

Comments:

Reference:

HP:0010024

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Stippling of the epiphysis of the proximal phalanx of the 3rd finger (HP:0009355)

Stippling of the epiphysis of the proximal phalanx of the 4th finger (HP:0009270)

Stippling of the epiphysis of the proximal phalanx of the 5th finger (HP:0009201)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010024	HP:0010024	Epiphyseal stippling of the first metacarpal	0	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.