Human Phenotype Ontology

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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 musculoskeletal physiology (HP:0011843)

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

..Starting node
..Multiple prenatal fractures (HP:0005855)

Term ID:

5855

Name:

Multiple prenatal fractures

Synonym:

Congenital bone fractures; Multiple fractures present at birth; Multiple fractures, present at birth; Numerous multiple fractures present at birth; Numerous multiple fractures that are present at birth

Definition:

The presence of bone fractures in the prenatal period that are diagnosed at birth or before.

Comments:

Reference:

HP:0005855

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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:0005855	HP:0005855	Multiple prenatal fractures	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0005855	HP:0005855	Multiple prenatal fractures	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0005855	HP:0005855	Multiple prenatal fractures	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0005855	HP:0005855	Multiple prenatal fractures	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0005855	HP:0005855	Multiple prenatal fractures	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0005855	HP:0005855	Multiple prenatal fractures	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0005855	HP:0005855	Multiple prenatal fractures	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0005855	HP:0005855	Multiple prenatal fractures	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0005855	HP:0005855	Multiple prenatal fractures	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0005855	HP:0005855	Multiple prenatal fractures	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0005855	HP:0005855	Multiple prenatal fractures	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0005855	HP:0005855	Multiple prenatal fractures	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0005855	HP:0005855	Multiple prenatal fractures	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0005855	HP:0005855	Multiple prenatal fractures	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0005855	HP:0005855	Multiple prenatal fractures	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0005855	HP:0005855	Multiple prenatal fractures	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0005855	HP:0005855	Multiple prenatal fractures	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0005855	HP:0005855	Multiple prenatal fractures	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0005855	HP:0005855	Multiple prenatal fractures	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.	39
HP:0005855	HP:0005855	Multiple prenatal fractures	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0005855	HP:0005855	Multiple prenatal fractures	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0005855	HP:0005855	Multiple prenatal fractures	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4

Genes (17) :ACTA1 ASCC1 CCDC134 COL1A1 COL1A2 CRTAP KLHL40 KLHL41 LBR LMOD3 MESD NEB P3H1 PPIB TAPT1 TPM3 TRIP4

Diseases (13) :ORPHA:171433 ORPHA:171430 OMIM:616867 OMIM:619795 OMIM:166210 OMIM:259420 OMIM:610682 OMIM:215140 OMIM:618644 OMIM:610915 OMIM:259440 OMIM:616897 OMIM:616866

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

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