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
..Digital flexor tenosynovitis (HP:0012276)

Term ID:

12276

Name:

Digital flexor tenosynovitis

Synonym:

Trigger finger

Definition:

Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.

Comments:

Reference:

HP:0012276

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the Achilles tendon (HP:0005109)

Flexion contracture (HP:0001371)

Tendon rupture (HP:0100550)

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:0012276	HP:0012276	Digital flexor tenosynovitis	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0012276	HP:0012276	Digital flexor tenosynovitis	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0012276	HP:0012276	Digital flexor tenosynovitis	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0012276	HP:0012276	Digital flexor tenosynovitis	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0012276	HP:0012276	Digital flexor tenosynovitis	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0012276	HP:0012276	Digital flexor tenosynovitis	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0012276	HP:0012276	Digital flexor tenosynovitis	0	TTR CL E G H	7276	12405	OMIM:115430	Carpal tunnel syndrome	.	107

Genes (7) :CD244 CIITA IL10 NFKBIL1 PTPN22 SLC22A4 TTR

Diseases (2) :OMIM:180300 OMIM:115430

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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