Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal bone ossification (HP:0011849)

..Starting node
..Ectopic ossification (HP:0011986)

Term ID:

11986

Name:

Ectopic ossification

Synonym:

Ectopic bone formation; Heterotopic ossification

Definition:

Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.

Comments:

Reference:

HP:0011986

Genes and Diseases:

Child Nodes:

........

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

........

Ectopic ossification in muscle tissue (HP:0011987)

........

Ectopic ossification in tendon tissue (HP:0011988)

........

Ectopic ossification in ligament tissue (HP:0011989)

Sister Nodes:

Abnormal enchondral ossification (HP:0003336)

Abnormal intramembranous ossification (HP:0012790)

Abnormality of bone mineral density (HP:0004348)

Decreased skull ossification (HP:0004331)

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:0011986	HP:0011986	Ectopic ossification	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva		49
HP:0011986	HP:0011986	Ectopic ossification	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva		49
HP:0011986	HP:0011986	Ectopic ossification	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia		101
HP:0011986	HP:0011986	Ectopic ossification	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0011986	HP:0011986	Ectopic ossification	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0011986	HP:0011986	Ectopic ossification	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101
HP:0011986	HP:0011986	Ectopic ossification	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0011986	HP:0011986	Ectopic ossification	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0011986	HP:0011986	Ectopic ossification	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	.	3
HP:0011986	HP:0003837	Soft-tissue ossification around the shoulders	1	CL E G H
HP:0011986	HP:0011989	Ectopic ossification in ligament tissue	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0011986	HP:0011988	Ectopic ossification in tendon tissue	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0011986	HP:0011987	Ectopic ossification in muscle tissue	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0011986	HP:0011987	Ectopic ossification in muscle tissue	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent	49
HP:0011986	HP:0011989	Ectopic ossification in ligament tissue	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49
HP:0011986	HP:0011987	Ectopic ossification in muscle tissue	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040282 - Frequent	101
HP:0011986	HP:0034282	Subcutaneous ossification	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA		101

Genes (4) :ACVR1 GNAS LBR NT5E

Diseases (9) :OMIM:135100 ORPHA:337 ORPHA:2762 ORPHA:79443 ORPHA:79444 OMIM:103580 ORPHA:79445 OMIM:215140 OMIM:211800

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen