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:
Arthritis (HP:0001369)

Parent Node:
Abnormal phalangeal joint morphology of the hand (HP:0006261)

Parent Node:
Osteoarthritis (HP:0002758)

..Starting node
..Osteoarthritis of the small joints of the hand (HP:0004268)

Term ID:

4268

Name:

Osteoarthritis of the small joints of the hand

Synonym:

Definition:

Comments:

Reference:

HP:0004268

Genes and Diseases:

Child Nodes:

........

Osteoarthritis of the first carpometacarpal joint (HP:0006226)

........

Osteoarthritis of the distal interphalangeal joint (HP:0006233)

Sister Nodes:

Hip osteoarthritis (HP:0008843)

Knee osteoarthritis (HP:0005086)

obsolete Cervical osteoarthritis (HP:0025266)

Osteoarthritis of the elbow (HP:0003940)

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:0004268	HP:0004268	Osteoarthritis of the small joints of the hand	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis		2
HP:0004268	HP:0004268	Osteoarthritis of the small joints of the hand	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0004268	HP:0004268	Osteoarthritis of the small joints of the hand	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004268	HP:0004268	Osteoarthritis of the small joints of the hand	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0004268	HP:0004268	Osteoarthritis of the small joints of the hand	0	TRPV4 CL E G H	59341	18083	ORPHA:85169	Familial digital arthropathy-brachydactyly	HP:0040281 - Very frequent	214
HP:0004268	HP:0006226	Osteoarthritis of the first carpometacarpal joint	1	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.	2
HP:0004268	HP:0006233	Osteoarthritis of the distal interphalangeal joint	1	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.	2
HP:0004268	HP:0006233	Osteoarthritis of the distal interphalangeal joint	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46

Genes (5) :ASPN MATN3 SMAD3 TRAPPC2 TRPV4

Diseases (5) :OMIM:607850 ORPHA:93311 ORPHA:284984 ORPHA:93284 ORPHA:85169

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