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 first metatarsal bone (HP:0010054)

Parent Node:
Metatarsal synostosis (HP:0001440)

Parent Node:
Proximal foot symphalangism (HP:0100237)

Parent Node:
Symphalangism affecting the proximal phalanges of the toes (HP:0010209)

Parent Node:
Symphalangism affecting the proximal phalanx of the hallux (HP:0010091)

Parent Node:
Synostosis involving the 1st metatarsal (HP:0010073)

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

Term ID:

100488

Name:

Synostosis of the proximal phalanx of the hallux with the 1st metatarsal

Synonym:

Fusion of the innermost big toe bone with the 1st long bone of foot

Definition:

Comments:

Reference:

HP:0100488

Genes and Diseases:

Child Nodes:

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