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 musculoskeletal physiology (HP:0011843)

Parent Node:
Increased susceptibility to fractures (HP:0002659)

..Starting node
..Bowing of limbs due to multiple fractures (HP:0003023)

Term ID:

3023

Name:

Bowing of limbs due to multiple fractures

Synonym:

Bowed limbs due to multiple fractures

Definition:

Curvature of the shafts of the long bones due to multiple fractures.

Comments:

Reference:

HP:0003023

Genes and Diseases:

Child Nodes:

Sister Nodes:

Multiple prenatal fractures (HP:0005855)

Painless fractures due to injury (HP:0002661)

Pathologic fracture (HP:0002756)

Recurrent fractures (HP:0002757)

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:0003023	HP:0003023	Bowing of limbs due to multiple fractures	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0003023	HP:0003023	Bowing of limbs due to multiple fractures	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0003023	HP:0003023	Bowing of limbs due to multiple fractures	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0003023	HP:0003023	Bowing of limbs due to multiple fractures	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0003023	HP:0003023	Bowing of limbs due to multiple fractures	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0003023	HP:0003023	Bowing of limbs due to multiple fractures	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12

Genes (4) :COL1A1 COL1A2 PPIB WNT1

Diseases (4) :OMIM:259420 OMIM:166220 OMIM:259440 OMIM:615220

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