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 thorax morphology (HP:0000765)

Parent Node:
Abnormal enchondral ossification (HP:0003336)

Parent Node:
Abnormal sternum morphology (HP:0000766)

..Starting node
..Abnormal sternal ossification (HP:0011863)

Term ID:

11863

Name:

Abnormal sternal ossification

Synonym:

Abnormal maturation of breastbone; Sternal ossification center abnormalities; Sternal ossification centre abnormalities

Definition:

Any anomaly in the formation of the bony substance of the sternum.

Comments:

Reference:

HP:0011863

Genes and Diseases:

Child Nodes:

........

Decreased number of sternal ossification centers (HP:0006611)

........

Absent sternal ossification (HP:0006628)

........

Large sternal ossification centers (HP:0006642)

........

Fused sternal ossification centers (HP:0006643)

Sister Nodes:

Abnormality of the xiphoid process (HP:0100892)

Aplasia/Hypoplasia of the sternum (HP:0006714)

Bifid sternum (HP:0010309)

Bulging of the costochondral junction (HP:0000893)

Pectus carinatum (HP:0000768)

Pectus excavatum (HP:0000767)

Prominent sternum (HP:0000884)

Rachitic rosary (HP:0000897)

Sternal punctate calcifications (HP:0006637)

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:0011863	HP:0011863	Abnormal sternal ossification	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome		83
HP:0011863	HP:0011863	Abnormal sternal ossification	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0011863	HP:0011863	Abnormal sternal ossification	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0011863	HP:0011863	Abnormal sternal ossification	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0011863	HP:0011863	Abnormal sternal ossification	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011863	HP:0011863	Abnormal sternal ossification	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0011863	HP:0011863	Abnormal sternal ossification	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0011863	HP:0011863	Abnormal sternal ossification	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0011863	HP:0011863	Abnormal sternal ossification	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0011863	HP:0011863	Abnormal sternal ossification	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0011863	HP:0011863	Abnormal sternal ossification	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0011863	HP:0011863	Abnormal sternal ossification	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0011863	HP:0011863	Abnormal sternal ossification	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0011863	HP:0006611	Decreased number of sternal ossification centers	1	CL E G H
HP:0011863	HP:0006643	Fused sternal ossification centers	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0011863	HP:0006628	Absent sternal ossification	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0011863	HP:0006628	Absent sternal ossification	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0011863	HP:0006642	Large sternal ossification centers	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0011863	HP:0006628	Absent sternal ossification	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0011863	HP:0006628	Absent sternal ossification	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0011863	HP:0006628	Absent sternal ossification	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0011863	HP:0006628	Absent sternal ossification	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (12) :CD96 CPLX1 CTBP1 FGFRL1 FIG4 LETM1 NFIX NSD2 ORC1 ORC6 SOX9 VAC14

Diseases (8) :OMIM:211750 OMIM:194190 OMIM:216340 ORPHA:3472 OMIM:602535 OMIM:224690 OMIM:613803 OMIM:114290

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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