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:
Abnormal hallux phalanx morphology (HP:0010057)

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

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

Parent Node:
Abnormal morphology of the proximal phalanx of the hallux (HP:0010052)

Parent Node:
Symphalangism affecting the middle phalanges of the toes (HP:0010200)

Parent Node:
Symphalangism affecting the phalanges of the hallux (HP:0010064)

..Starting node
..Symphalangism affecting the proximal phalanx of the hallux (HP:0010091)

Term ID:

10091

Name:

Symphalangism affecting the proximal phalanx of the hallux

Synonym:

Fused innermost bone of big toe

Definition:

Comments:

Reference:

HP:0010091

Genes and Diseases:

Child Nodes:

........

Symphalangism affecting the distal phalanx of the hallux (HP:0010082)

........

Synostosis of the proximal phalanx of the hallux with the 1st metatarsal (HP:0100488)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010091	HP:0010091	Symphalangism affecting the proximal phalanx of the hallux	0	CL E G H
HP:0010091	HP:0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	1	CL E G H
HP:0010091	HP:0010082	Symphalangism affecting the distal phalanx of the hallux	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.