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 tarsal bones (HP:0001850)

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

Grandparent Node:
Synostosis of carpals/tarsals (HP:0100266)

Parent Node:
Tarsal synostosis (HP:0008368)

..Starting node
..Calcaneonavicular fusion (HP:0008122)

Term ID:

8122

Name:

Calcaneonavicular fusion

Synonym:

Definition:

Synostosis of the calcaneus with the navicular bone.

Comments:

Reference:

HP:0008122

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coalescence of tarsal bones (HP:0005802)

Partial fusion of tarsals (HP:0008097)

Talocalcaneal synostosis (HP:0005682)

Tarsometatarsal synostosis (HP:0100329)

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:0008122	HP:0008122	Calcaneonavicular fusion	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0008122	HP:0008122	Calcaneonavicular fusion	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175

Genes (2) :FGFR1 FGFR2

Diseases (1) :OMIM:123150

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