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

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

Grandparent Node:
Sclerosis of proximal finger phalanx (HP:0100917)

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

Parent Node:
Ivory epiphyses of the metacarpals (HP:0009191)

Parent Node:
Ivory epiphyses of the proximal phalanges of the hand (HP:0010274)

..Starting node
..Ivory epiphysis of the 1st metacarpal (HP:0010021)

Term ID:

10021

Name:

Ivory epiphysis of the 1st metacarpal

Synonym:

Increased bone density of end part of the 1st long bone of hand

Definition:

The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.

Comments:

Reference:

HP:0010021

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ivory epiphysis of the proximal phalanx of the 2nd finger (HP:0009530)

Ivory epiphysis of the proximal phalanx of the 3rd finger (HP:0009352)

Ivory epiphysis of the proximal phalanx of the 4th finger (HP:0009267)

Ivory epiphysis of the proximal phalanx of the 5th finger (HP:0009157)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010021	HP:0010021	Ivory epiphysis of the 1st 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.