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 middle phalanx of the 2nd finger (HP:0009543)

Grandparent Node:
Symphalangism of middle phalanx of finger (HP:0009849)

Grandparent Node:
Symphalangism of the 2nd finger (HP:0009545)

Parent Node:
Proximal symphalangism of hands (HP:0006152)

Parent Node:
Symphalangism affecting the proximal phalanx of the 2nd finger (HP:0009586)

Parent Node:
Symphalangism of middle phalanx of 2nd finger (HP:0009574)

..Starting node
..Proximal/middle symphalangism of the 2nd finger (HP:0009579)

Term ID:

9579

Name:

Proximal/middle symphalangism of the 2nd finger

Synonym:

Fused innermost and middle index finger bones

Definition:

Fusion of the proximal and middle phalanges of the 2nd finger.

Comments:

Reference:

HP:0009579

Genes and Diseases:

Child Nodes:

Sister Nodes:

Distal/middle symphalangism of 2nd finger (HP:0009563)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009579	HP:0009579	Proximal/middle symphalangism 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.