Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Arthritis (HP:0001369)

Parent Node:
Osteoarthritis (HP:0002758)

..Starting node
..Premature osteoarthritis (HP:0003088)

Term ID:

3088

Name:

Premature osteoarthritis

Synonym:

Premature arthritis; Premature osteoarthritis

Definition:

Comments:

Reference:

HP:0003088

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hip osteoarthritis (HP:0008843)

Knee osteoarthritis (HP:0005086)

obsolete Cervical osteoarthritis (HP:0025266)

Osteoarthritis of the elbow (HP:0003940)

Osteoarthritis of the small joints of the hand (HP:0004268)

Sacroiliac arthritis (HP:0012317)

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:0003088	HP:0003088	Premature osteoarthritis	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0003088	HP:0003088	Premature osteoarthritis	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0003088	HP:0003088	Premature osteoarthritis	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0003088	HP:0003088	Premature osteoarthritis	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0003088	HP:0003088	Premature osteoarthritis	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0003088	HP:0003088	Premature osteoarthritis	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent	14
HP:0003088	HP:0003088	Premature osteoarthritis	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0003088	HP:0003088	Premature osteoarthritis	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040282 - Frequent	32
HP:0003088	HP:0003088	Premature osteoarthritis	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040282 - Frequent	166
HP:0003088	HP:0003088	Premature osteoarthritis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent	46
HP:0003088	HP:0003088	Premature osteoarthritis	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214

Genes (9) :COL11A2 COL1A1 DDRGK1 FBN1 KIF22 MATN3 SLC26A2 TRAPPC2 TRPV4

Diseases (11) :OMIM:215150 OMIM:184840 OMIM:130060 ORPHA:93352 OMIM:154700 ORPHA:93360 OMIM:607078 ORPHA:93311 ORPHA:93307 ORPHA:93284 ORPHA:93314

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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