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 ossification (HP:0011849)

Parent Node:
Ectopic ossification (HP:0011986)

..Starting node
..Ectopic ossification in muscle tissue (HP:0011987)

Term ID:

11987

Name:

Ectopic ossification in muscle tissue

Synonym:

Calcification of muscle tissue

Definition:

Formation of abnormal bony tissue within muscle tissue.

Comments:

Reference:

HP:0011987

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic ossification in ligament tissue (HP:0011989)

Ectopic ossification in tendon tissue (HP:0011988)

Soft-tissue ossification around the shoulders (HP:0003837)

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:0011987	HP:0011987	Ectopic ossification in muscle tissue	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0011987	HP:0011987	Ectopic ossification in muscle tissue	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0011987	HP:0011987	Ectopic ossification in muscle tissue	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040282 - Frequent	101

Genes (2) :ACVR1 GNAS

Diseases (3) :OMIM:135100 ORPHA:337 ORPHA:2762

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