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 lower limb joint (HP:0100491)

Parent Node:
Abnormality of the ankles (HP:0003028)

..Starting node
..Ankle swelling (HP:0001785)

Term ID:

1785

Name:

Ankle swelling

Synonym:

Ankle swelling

Definition:

Comments:

Reference:

HP:0001785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ankle clonus (HP:0011448)

Ankle flexion contracture (HP:0006466)

Distal tibial bowing (HP:0006414)

Enlargement of the ankles (HP:0003029)

Increased laxity of ankles (HP:0006460)

Limitation of movement at ankles (HP:0010505)

Talipes valgus (HP:0004684)

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:0001785	HP:0001785	Ankle swelling	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001785	HP:0001785	Ankle swelling	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0001785	HP:0001785	Ankle swelling	0	FLT4 CL E G H	2324	3767	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	90
HP:0001785	HP:0001785	Ankle swelling	0	GJC2 CL E G H	57165	17494	ORPHA:79452	Milroy disease	HP:0040282 - Frequent	37
HP:0001785	HP:0001785	Ankle swelling	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0001785	HP:0001785	Ankle swelling	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001785	HP:0001785	Ankle swelling	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.	63
HP:0001785	HP:0001785	Ankle swelling	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0001785	HP:0001785	Ankle swelling	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0001785	HP:0001785	Ankle swelling	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2

Genes (10) :ANKRD55 CD247 FLT4 GJC2 IL2RA IL2RB MAFB PTPN2 PTPN22 STAT4

Diseases (3) :ORPHA:85408 ORPHA:79452 OMIM:166300

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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