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:
Abnormal hip bone morphology (HP:0003272)

Grandparent Node:
Abnormality of lower limb joint (HP:0100491)

Grandparent Node:
Abnormality of the synovia (HP:0005262)

Parent Node:
Abnormal hip joint morphology (HP:0001384)

..Starting node
..Femoroacetabular impingement (HP:0030883)

Term ID:

30883

Name:

Femoroacetabular impingement

Synonym:

Femoral acetabular impingement

Definition:

Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.

Comments:

Reference:

HP:0030883

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal acetabulum morphology (HP:0003170)

Hip dislocation (HP:0002827)

Hip subluxation (HP:0030043)

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:0030883	HP:0030883	Femoroacetabular impingement	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0030883	HP:0030883	Femoroacetabular impingement	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102

Genes (2) :EXT1 EXT2

Diseases (1) :ORPHA:321

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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