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:
Abnormal foot morphology (HP:0001760)

Grandparent Node:
Abnormal tendon morphology (HP:0100261)

Parent Node:
Abnormality of the Achilles tendon (HP:0005109)

..Starting node
..Achilles tendon calcification (HP:0025441)

Term ID:

25441

Name:

Achilles tendon calcification

Synonym:

Calcification of the Achilles tendon

Definition:

Ectopic deposition of calcium salts in the Achilles tendon.

Comments:

Reference:

HP:0025441

Genes and Diseases:

Child Nodes:

Sister Nodes:

Achilles tendon contracture (HP:0001771)

Thickened Achilles tendon (HP:0004690)

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:0025441	HP:0025441	Achilles tendon calcification	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3	68

Genes (1) :KL

Diseases (1) :OMIM:617994

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