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 sternum morphology (HP:0000766)

..Starting node
..Bifid sternum (HP:0010309)

Term ID:

10309

Name:

Bifid sternum

Synonym:

Sternal cleft

Definition:

The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.

Comments:

Reference:

HP:0010309

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal sternal ossification (HP:0011863)

Abnormality of the xiphoid process (HP:0100892)

Aplasia/Hypoplasia of the sternum (HP:0006714)

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:0010309	HP:0010309	Bifid sternum	0	DACT1 CL E G H	51339	17748	ORPHA:63260	Craniorachischisis	HP:0040283 - Occasional	2
HP:0010309	HP:0010309	Bifid sternum	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65

Genes (2) :DACT1 RPS6KA3

Diseases (2) :ORPHA:63260 OMIM:303600

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