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 phalanges of the 3rd toe (HP:0010330)

Grandparent Node:
Symphalangism affecting the phalanges of the toes (HP:0010179)

Grandparent Node:
Synostosis involving bones of the toes (HP:0100235)

Parent Node:
Symphalangism affecting the phalanges of the 3rd toe (HP:0010365)

..Starting node
..Symphalangism affecting the proximal phalanx of the 3rd toe (HP:0100473)

Term ID:

100473

Name:

Symphalangism affecting the proximal phalanx of the 3rd toe

Synonym:

Fused innermost bone of 3rd toe

Definition:

Comments:

Reference:

HP:0100473

Genes and Diseases:

Child Nodes:

........

Proximal/middle symphalangism of 3rd toe (HP:0100480)

........

Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal (HP:0100484)

Sister Nodes:

Symphalangism affecting the middle phalanx of the 3rd toe (HP:0100470)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100473	HP:0100473	Symphalangism affecting the proximal phalanx of the 3rd toe	0	CL E G H
HP:0100473	HP:0100484	Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal	1	CL E G H
HP:0100473	HP:0100480	Proximal/middle symphalangism of 3rd toe	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.