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 epiphyseal ossification (HP:0010656)

Grandparent Node:
Abnormal epiphysis morphology (HP:0005930)

Grandparent Node:
Ectopic calcification (HP:0010766)

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

Parent Node:
Abnormal metacarpal epiphysis morphology (HP:0005913)

Parent Node:
Epiphyseal stippling (HP:0010655)

..Starting node
..Epiphyseal stippling of the metacarpals (HP:0009195)

Term ID:

9195

Name:

Epiphyseal stippling of the metacarpals

Synonym:

Speckled calcifications in end part of the long bone of hand; Stippling of the epiphyses of the metacarpals

Definition:

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

Comments:

Reference:

HP:0009195

Genes and Diseases:

Child Nodes:

........

Epiphyseal stippling of the first metacarpal (HP:0010024)

Sister Nodes:

Calcaneal epiphyseal stippling (HP:0004695)

Distal ulnar epiphyseal stippling (HP:0006370)

Epiphyseal stippling of finger phalanges (HP:0010237)

Epiphyseal stippling of the humerus (HP:0003902)

Epiphyseal stippling of toe phalanges (HP:0010171)

Neonatal epiphyseal stippling (HP:0005756)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009195	HP:0009195	Epiphyseal stippling of the metacarpals	0	CL E G H
HP:0009195	HP:0010024	Epiphyseal stippling of the first metacarpal	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.