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:
Abnormal ilium morphology (HP:0002867)

Grandparent Node:
Abnormal joint morphology (HP:0001367)

Grandparent Node:
Abnormal sacrum morphology (HP:0005107)

Parent Node:
Abnormal sacroiliac joint morphology (HP:0100781)

..Starting node
..Sacroiliac joint synovitis (HP:0012449)

Term ID:

12449

Name:

Sacroiliac joint synovitis

Synonym:

Definition:

Inflammation of the synovial membrane of the sacroiliac joint.

Comments:

Reference:

HP:0012449

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Abnormality of the sacroiliac notch (HP:0030266)

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:0012449	HP:0012449	Sacroiliac joint synovitis	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217

Genes (1) :PHEX

Diseases (1) :ORPHA:89936

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