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)

Parent Node:
Pectus carinatum (HP:0000768)

..Starting node
..Superior pectus carinatum (HP:0000917)

Term ID:

917

Name:

Superior pectus carinatum

Synonym:

Pectus carinatum superiorly

Definition:

Pectus carinatum affecting primarily the superior part of the sternum.

Comments:

Reference:

HP:0000917

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:0000917	HP:0000917	Superior pectus carinatum	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0000917	HP:0000917	Superior pectus carinatum	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0000917	HP:0000917	Superior pectus carinatum	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.	1952
HP:0000917	HP:0000917	Superior pectus carinatum	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291

Genes (4) :BRAF MAP2K1 NF1 PTPN11

Diseases (2) :OMIM:163950 OMIM:601321

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