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 proximal phalanx of the 2nd finger (HP:0009544)

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

Grandparent Node:
Duplication of the proximal phalanx of hand (HP:0010006)

Parent Node:
Complete duplication of the phalanges of the 2nd finger (HP:0009957)

Parent Node:
Complete duplication of the proximal phalanges of the hand (HP:0010000)

Parent Node:
Duplication of the proximal phalanx of the 2nd finger (HP:0009947)

..Starting node
..Complete duplication of the proximal phalanx of the 2nd finger (HP:0009954)

Term ID:

9954

Name:

Complete duplication of the proximal phalanx of the 2nd finger

Synonym:

Complete duplication of the proximal bone of the index finger

Definition:

Complete duplication of the second proximal phalanx of hand.

Comments:

Reference:

HP:0009954

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0009954	HP:0009954	Complete duplication of the proximal 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.