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:
Abnormality of the abdominal wall (HP:0004298)

Parent Node:
Abnormal umbilicus morphology (HP:0001551)

..Starting node
..Prominent umbilicus (HP:0001544)

Term ID:

1544

Name:

Prominent umbilicus

Synonym:

Prominent belly button; Prominent navel

Definition:

Abnormally prominent umbilicus (belly button).

Comments:

Reference:

HP:0001544

Genes and Diseases:

Child Nodes:

Sister Nodes:

Umbilical hernia (HP:0001537)

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:0001544	HP:0001544	Prominent umbilicus	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0001544	HP:0001544	Prominent umbilicus	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0001544	HP:0001544	Prominent umbilicus	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0001544	HP:0001544	Prominent umbilicus	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0001544	HP:0001544	Prominent umbilicus	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0001544	HP:0001544	Prominent umbilicus	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	645
HP:0001544	HP:0001544	Prominent umbilicus	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040281 - Very frequent	83

Genes (7) :AGPAT2 BSCL2 CAVIN1 FGD1 KAT6A LMNA ZMPSTE24

Diseases (6) :OMIM:608594 OMIM:269700 OMIM:613327 OMIM:305400 OMIM:616268 ORPHA:740

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