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

Grandparent Node:
Fragmented epiphyses of the upper limbs (HP:0003841)

Parent Node:
Abnormality of thumb epiphysis (HP:0009599)

Parent Node:
Fragmentation of the epiphyses of the phalanges of the hand (HP:0010232)

..Starting node
..Fragmentation of thumb epiphysis (HP:0009690)

Term ID:

9690

Name:

Fragmentation of thumb epiphysis

Synonym:

Fragmentation of end part of long bone of thumb; Fragmentation of the epiphyses of the thumb

Definition:

Epiphysis of the thumb having multiple bony fragments.

Comments:

Reference:

HP:0009690

Genes and Diseases:

Child Nodes:

........

Fragmentation of the epiphysis of the proximal phalanx of the thumb (HP:0009668)

........

Fragmentation of the epiphysis of the distal phalanx of the thumb (HP:0009679)

Sister Nodes:

Fragmentation of the epiphyses of the 2nd finger (HP:0009492)

Fragmentation of the epiphyses of the 3rd finger (HP:0009414)

Fragmentation of the epiphyses of the 4th finger (HP:0009397)

Fragmentation of the epiphyses of the 5th finger (HP:0009386)

Fragmentation of the epiphyses of the distal phalanges of the hand (HP:0010250)

Fragmentation of the epiphyses of the middle phalanges of the hand (HP:0010261)

Fragmentation of the epiphyses of the proximal phalanges of the hand (HP:0010272)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009690	HP:0009690	Fragmentation of thumb epiphysis	0	CL E G H
HP:0009690	HP:0009679	Fragmentation of the epiphysis of the distal phalanx of the thumb	1	CL E G H
HP:0009690	HP:0009668	Fragmentation of the epiphysis of the proximal phalanx of the thumb	1	CL E G H
HP:0009690	HP:0041216	Fractured distal epiphysis of distal phalanx of manual digit 1	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.