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 toes (HP:0010161)

Parent Node:
Abnormality of the phalanges of the 3rd toe (HP:0010330)

Parent Node:
Triangular shaped phalanges of the toes (HP:0010180)

..Starting node
..Triangular shaped phalanges of the 3rd toe (HP:0010366)

Term ID:

10366

Name:

Triangular shaped phalanges of the 3rd toe

Synonym:

Triangular shaped 3rd toe bones

Definition:

Comments:

Reference:

HP:0010366

Genes and Diseases:

Child Nodes:

........

Proximal/middle symphalangism of 5th toe (HP:0100482)

........

Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal (HP:0100485)

........

Proximal/middle symphalangism of 2nd toe (HP:0100489)

Sister Nodes:

Triangular shaped distal phalanges of the toes (HP:0010192)

Triangular shaped middle phalanges of the toes (HP:0010201)

Triangular shaped phalanges of the 2nd toe (HP:0010354)

Triangular shaped phalanges of the 4th toe (HP:0010378)

Triangular shaped phalanges of the 5th toe (HP:0010390)

Triangular shaped phalanges of the hallux (HP:0010065)

Triangular shaped proximal phalanges of the toes (HP:0010210)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010366	HP:0010366	Triangular shaped phalanges of the 3rd toe	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22
HP:0010366	HP:0100489	Proximal/middle symphalangism of 2nd toe	1	CL E G H
HP:0010366	HP:0100485	Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal	1	CL E G H
HP:0010366	HP:0100482	Proximal/middle symphalangism of 5th toe	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	22

Genes (1) :NOG

Diseases (1) :OMIM:186500

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.