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:
Pseudoepiphyses of hand bones (HP:0004288)

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

Parent Node:
Pseudoepiphyses of the phalanges of the hand (HP:0010235)

..Starting node
..Pseudoepiphysis of the thumb (HP:0009693)

Term ID:

9693

Name:

Pseudoepiphysis of the thumb

Synonym:

Pseudoepiphyses of the thumb

Definition:

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.

Comments:

Reference:

HP:0009693

Genes and Diseases:

Child Nodes:

........

Pseudoepiphysis of the proximal phalanx of the thumb (HP:0009671)

........

Pseudoepiphysis of the distal phalanx of the thumb (HP:0009682)

Sister Nodes:

Pseudoepiphyses of the 3rd finger (HP:0009417)

Pseudoepiphyses of the 4th finger (HP:0009400)

Pseudoepiphyses of the 5th finger (HP:0009389)

Pseudoepiphyses of the distal phalanges of the hand (HP:0010253)

Pseudoepiphyses of the middle phalanges of the hand (HP:0010264)

Pseudoepiphyses of the proximal phalanges of the hand (HP:0010275)

Pseudoepiphysis of the 2nd finger (HP:0009495)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009693	HP:0009693	Pseudoepiphysis of the thumb	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0009693	HP:0009682	Pseudoepiphysis of the distal phalanx of the thumb	1	CL E G H
HP:0009693	HP:0009671	Pseudoepiphysis of the proximal phalanx of the thumb	1	CL E G H

Genes (1) :KCNH1

Diseases (1) :OMIM:611816

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.