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:
Abnormality of the elbow (HP:0009811)

Parent Node:
Osteoarthritis (HP:0002758)

..Starting node
..Osteoarthritis of the elbow (HP:0003940)

Term ID:

3940

Name:

Osteoarthritis of the elbow

Synonym:

Definition:

Comments:

Reference:

HP:0003940

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hip osteoarthritis (HP:0008843)

Knee osteoarthritis (HP:0005086)

obsolete Cervical osteoarthritis (HP:0025266)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003940	HP:0003940	Osteoarthritis of the elbow	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	6

Genes (1) :PRG4

Diseases (1) :ORPHA:2848

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