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 bone structure (HP:0003330)

Parent Node:
Bone cyst (HP:0012062)

..Starting node
..Aneurysmal bone cyst (HP:0012063)

Term ID:

12063

Name:

Aneurysmal bone cyst

Synonym:

Definition:

Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.

Comments:

Reference:

HP:0012063

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cystic angiomatosis of bone (HP:0002833)

Multiple bony cystic lesions (HP:0012065)

Unicameral bone cyst (HP:0012064)

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:0012063	HP:0012063	Aneurysmal bone cyst	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101

Genes (1) :GNAS

Diseases (1) :ORPHA:562

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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