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

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

Parent Node:
Abnormality of the epiphysis of the proximal phalanx of the 4th finger (HP:0009248)

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

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

..Starting node
..Enlarged epiphysis of the proximal phalanx of the 4th finger (HP:0009264)

Term ID:

9264

Name:

Enlarged epiphysis of the proximal phalanx of the 4th finger

Synonym:

Enlarged end part of the innermost bone of the ring finger

Definition:

Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.

Comments:

Reference:

HP:0009264

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged epiphysis of the 1st metacarpal (HP:0010018)

Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527)

Enlarged epiphysis of the proximal phalanx of the 3rd finger (HP:0009349)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009264	HP:0009264	Enlarged epiphysis of the proximal phalanx of the 4th finger	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.