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:
Enlarged epiphyses (HP:0010580)

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

Parent Node:
Enlarged epiphyses of the phalanges of the hand (HP:0010231)

..Starting node
..Enlarged thumb epiphysis (HP:0009689)

Term ID:

9689

Name:

Enlarged thumb epiphysis

Synonym:

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

Definition:

Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.

Comments:

Reference:

HP:0009689

Genes and Diseases:

Child Nodes:

........

Enlarged epiphysis of the proximal phalanx of the thumb (HP:0009667)

........

Enlarged epiphysis of the distal phalanx of the thumb (HP:0009678)

Sister Nodes:

Enlarged epiphyses of the 2nd finger (HP:0009491)

Enlarged epiphyses of the 3rd finger (HP:0009413)

Enlarged epiphyses of the 4th finger (HP:0009396)

Enlarged epiphyses of the 5th finger (HP:0009385)

Enlarged epiphyses of the distal phalanges of the hand (HP:0010249)

Enlarged epiphyses of the middle phalanges of the hand (HP:0010260)

Enlarged epiphyses of the proximal phalanges of the hand (HP:0010271)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009689	HP:0009689	Enlarged thumb epiphysis	0	CL E G H
HP:0009689	HP:0009678	Enlarged epiphysis of the distal phalanx of the thumb	1	CL E G H
HP:0009689	HP:0009667	Enlarged epiphysis of the proximal phalanx of the thumb	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.