Human Phenotype Ontology

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 sternum morphology (HP:0000766)

Grandparent Node:
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)

Parent Node:
Abnormal sternal ossification (HP:0011863)

Parent Node:
Aplasia/Hypoplasia of the sternum (HP:0006714)

..Starting node
..Absent sternal ossification (HP:0006628)

Term ID:

6628

Name:

Absent sternal ossification

Synonym:

Absent bone maturation in sternum; Absent sternal mineralization; Lack of sternal ossification

Definition:

Lack of formation of mineralized bony tissue of the sternum.

Comments:

Reference:

HP:0006628

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asternia (HP:0010308)

Premature sternal synostosis (HP:0006590)

Short sternum (HP:0000879)

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:0006628	HP:0006628	Absent sternal ossification	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0006628	HP:0006628	Absent sternal ossification	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0006628	HP:0006628	Absent sternal ossification	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0006628	HP:0006628	Absent sternal ossification	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0006628	HP:0006628	Absent sternal ossification	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0006628	HP:0006628	Absent sternal ossification	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (5) :FIG4 ORC1 ORC6 SOX9 VAC14

Diseases (5) :OMIM:216340 ORPHA:3472 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.