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:
Fibrous dysplasia of the bones (HP:0010734)

..Starting node
..Monostotic fibrous dysplasia (HP:0010736)

Term ID:

10736

Name:

Monostotic fibrous dysplasia

Synonym:

Definition:

Fibrous dysplasia of the bones were lesions are localized in only one bone.

Comments:

Reference:

HP:0010736

Genes and Diseases:

Child Nodes:

Sister Nodes:

Polyostotic fibrous dysplasia (HP:0010735)

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:0010736	HP:0010736	Monostotic fibrous dysplasia	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	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.