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:
Synostosis of joints (HP:0100240)

Parent Node:
Abnormal metatarsal morphology (HP:0001832)

Parent Node:
Synostosis involving bones of the feet (HP:0009140)

Parent Node:
Synostosis of metacarpals/metatarsals (HP:0100265)

..Starting node
..Metatarsal synostosis (HP:0001440)

Term ID:

1440

Name:

Metatarsal synostosis

Synonym:

Fusion of metatarsals; Fusion of the long bones of the feet; Synostosis involving metatarsal bones

Definition:

Comments:

Reference:

HP:0001440

Genes and Diseases:

Child Nodes:

........

Tarsometatarsal synostosis (HP:0100329)

........

Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal (HP:0100483)

........

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

........

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

........

Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal (HP:0100486)

........

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

Sister Nodes:

Metacarpal synostosis (HP:0009701)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001440	HP:0001440	Metatarsal synostosis	0	FBLN1 CL E G H	2192	3600	OMIM:608180	Synpolydactyly 2	.	12
HP:0001440	HP:0001440	Metatarsal synostosis	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3		75
HP:0001440	HP:0001440	Metatarsal synostosis	0	HOXD13 CL E G H	3239	5136	ORPHA:93406	Syndactyly type 5	HP:0040281 - Very frequent	25
HP:0001440	HP:0001440	Metatarsal synostosis	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0001440	HP:0001440	Metatarsal synostosis	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0001440	HP:0001440	Metatarsal synostosis	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0001440	HP:0001440	Metatarsal synostosis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0001440	HP:0100484	Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal	1	CL E G H
HP:0001440	HP:0100329	Tarsometatarsal synostosis	1	CL E G H
HP:0001440	HP:0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	1	CL E G H
HP:0001440	HP:0100486	Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal	1	CL E G H
HP:0001440	HP:0100485	Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal	1	CL E G H
HP:0001440	HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2

Genes (7) :FBLN1 FGF9 HOXD13 MAP3K20 POR SALL1 SLC26A2

Diseases (7) :OMIM:608180 OMIM:612961 ORPHA:93406 ORPHA:488232 ORPHA:95699 OMIM:107480 ORPHA:93307

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

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