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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal tendon morphology (HP:0100261)

..Starting node
..Tendon rupture (HP:0100550)

Term ID:

100550

Name:

Tendon rupture

Synonym:

Rupture of tendons; Ruptured tendon; Tendon rupture; Tendon/muscle rupture

Definition:

Breakage (tear) of a tendon.

Comments:

Reference:

HP:0100550

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the Achilles tendon (HP:0005109)

Digital flexor tenosynovitis (HP:0012276)

Flexion contracture (HP:0001371)

Tendon xanthomatosis (HP:0010874)

Tendonitis (HP:0025230)

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:0100550	HP:0100550	Tendon rupture	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243
HP:0100550	HP:0100550	Tendon rupture	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0100550	HP:0100550	Tendon rupture	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent	77
HP:0100550	HP:0100550	Tendon rupture	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0100550	HP:0100550	Tendon rupture	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107

Genes (5) :COL1A2 EMILIN1 HGD IFIH1 TTR

Diseases (5) :ORPHA:230851 OMIM:620080 ORPHA:56 OMIM:182250 ORPHA:85451

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