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
..Hip osteoarthritis (HP:0008843)

Term ID:

8843

Name:

Hip osteoarthritis

Synonym:

Osteoarthritis of hip

Definition:

Comments:

Reference:

HP:0008843

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

Premature osteoarthritis (HP:0003088)

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:0008843	HP:0008843	Hip osteoarthritis	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0008843	HP:0008843	Hip osteoarthritis	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0008843	HP:0008843	Hip osteoarthritis	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	8
HP:0008843	HP:0008843	Hip osteoarthritis	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0008843	HP:0008843	Hip osteoarthritis	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	284
HP:0008843	HP:0008843	Hip osteoarthritis	0	COL2A1 CL E G H	1280	2200	OMIM:604864	Osteoarthritis with mild chondrodysplasia	.	284
HP:0008843	HP:0008843	Hip osteoarthritis	0	COL2A1 CL E G H	1280	2200	OMIM:619248	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED		284
HP:0008843	HP:0008843	Hip osteoarthritis	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0008843	HP:0008843	Hip osteoarthritis	0	FRZB CL E G H	2487	3959	OMIM:165720	Osteoarthritis susceptibility 1		2
HP:0008843	HP:0008843	Hip osteoarthritis	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040282 - Frequent	52
HP:0008843	HP:0008843	Hip osteoarthritis	0	HLA-B CL E G H	3106	4932	OMIM:106300	Spondyloarthropathy, susceptibility to, 1	.	4
HP:0008843	HP:0008843	Hip osteoarthritis	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	65
HP:0008843	HP:0008843	Hip osteoarthritis	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0008843	HP:0008843	Hip osteoarthritis	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0008843	HP:0008843	Hip osteoarthritis	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	3
HP:0008843	HP:0008843	Hip osteoarthritis	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0008843	HP:0008843	Hip osteoarthritis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0008843	HP:0008843	Hip osteoarthritis	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0008843	HP:0008843	Hip osteoarthritis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0008843	HP:0008843	Hip osteoarthritis	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46
HP:0008843	HP:0008843	Hip osteoarthritis	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	214

Genes (18) :ACAN ANKRD55 CD247 CLCN7 COL2A1 COMP FRZB GDF5 HLA-B IL2RA IL2RB PTPN2 PTPN22 SMAD2 SMAD3 STAT4 TRAPPC2 TRPV4

Diseases (14) :OMIM:165800 ORPHA:85408 OMIM:166600 ORPHA:86820 OMIM:604864 OMIM:619248 OMIM:132400 OMIM:165720 ORPHA:63442 OMIM:106300 OMIM:619656 OMIM:613795 ORPHA:93284 OMIM:313400

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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