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 bone structure (HP:0003330)

Parent Node:
Bone cyst (HP:0012062)

..Starting node
..Multiple bony cystic lesions (HP:0012065)

Term ID:

12065

Name:

Multiple bony cystic lesions

Synonym:

Multiple bony cystic lesions

Definition:

Presence of multiple cystic changes in multiple areas or multiple bones.

Comments:

Reference:

HP:0012065

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aneurysmal bone cyst (HP:0012063)

Cystic angiomatosis of bone (HP:0002833)

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:0012065	HP:0012065	Multiple bony cystic lesions	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8

Genes (1) :B2M

Diseases (1) :ORPHA:314652

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