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:
Duplication of phalanx of 2nd finger (HP:0009945)

Grandparent Node:
Partial duplication of the phalanx of hand (HP:0009999)

Parent Node:
Duplication of the middle phalanx of the 2nd finger (HP:0009949)

Parent Node:
Partial duplication of the middle phalanges of the hand (HP:0010005)

Parent Node:
Partial duplication of the phalanges of the 2nd finger (HP:0009956)

..Starting node
..Partial duplication of the middle phalanx of the 2nd finger (HP:0009953)

Term ID:

9953

Name:

Partial duplication of the middle phalanx of the 2nd finger

Synonym:

Partial duplication of the middle bone of the index finger

Definition:

Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.

Comments:

Reference:

HP:0009953

Genes and Diseases:

Child Nodes:

Sister Nodes:

Partial duplication of the distal phalanx of the 2nd finger (HP:0009951)

Partial duplication of the proximal phalanx of the 2nd finger (HP:0009955)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009953	HP:0009953	Partial duplication of the middle phalanx of the 2nd 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.