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
..Talocalcaneal synostosis (HP:0005682)

Term ID:

5682

Name:

Talocalcaneal synostosis

Synonym:

Fusion of foot joint; Fusion of the subtalar joint

Definition:

Comments:

Reference:

HP:0005682

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcaneonavicular fusion (HP:0008122)

Coalescence of tarsal bones (HP:0005802)

Partial fusion of tarsals (HP:0008097)

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:0005682	HP:0005682	Talocalcaneal synostosis	0	TBX4 CL E G H	9496	11603	OMIM:147891	Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension	.	55

Genes (1) :TBX4

Diseases (1) :OMIM:147891

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