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 sternum morphology (HP:0000766)

Parent Node:
Pectus excavatum (HP:0000767)

..Starting node
..Pectus excavatum of inferior sternum (HP:0000915)

Term ID:

915

Name:

Pectus excavatum of inferior sternum

Synonym:

Pectus excavatum inferiorly

Definition:

Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.

Comments:

Reference:

HP:0000915

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0000915	HP:0000915	Pectus excavatum of inferior sternum	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0000915	HP:0000915	Pectus excavatum of inferior sternum	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0000915	HP:0000915	Pectus excavatum of inferior sternum	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.	1952
HP:0000915	HP:0000915	Pectus excavatum of inferior sternum	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0000915	HP:0000915	Pectus excavatum of inferior sternum	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	.	315

Genes (5) :BRAF MAP2K1 NF1 PTPN11 SOS1

Diseases (3) :OMIM:163950 OMIM:601321 OMIM:610733

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