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:
Irregular epiphyses of the upper limbs (HP:0003842)

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

Parent Node:
Irregular epiphyses of the phalanges of the hand (HP:0010233)

..Starting node
..Irregular thumb epiphysis (HP:0009691)

Term ID:

9691

Name:

Irregular thumb epiphysis

Synonym:

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

Definition:

Uneven radiographic opacity of the one or more epiphyses of the thumb.

Comments:

Reference:

HP:0009691

Genes and Diseases:

Child Nodes:

........

Irregular epiphysis of the proximal phalanx of the thumb (HP:0009669)

........

Irregular epiphysis of the distal phalanx of the thumb (HP:0009680)

Sister Nodes:

Irregular epiphyses of the 2nd finger (HP:0009493)

Irregular epiphyses of the 3rd finger (HP:0009415)

Irregular epiphyses of the 4th finger (HP:0009398)

Irregular epiphyses of the 5th finger (HP:0009387)

Irregular epiphyses of the distal phalanges of the hand (HP:0010251)

Irregular epiphyses of the middle phalanges of the hand (HP:0010262)

Irregular epiphyses of the proximal phalanges of the hand (HP:0010273)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009691	HP:0009691	Irregular thumb epiphysis	0	CL E G H
HP:0009691	HP:0009680	Irregular epiphysis of the distal phalanx of the thumb	1	CL E G H
HP:0009691	HP:0009669	Irregular 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.