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

..Starting node
..Inferiorly positioned umbilicus (HP:0032527)

Term ID:

32527

Name:

Inferiorly positioned umbilicus

Synonym:

Low set umbilicus; Low-set umbilicus

Definition:

The position of the umbilicus (belly button) is abnormally low (inferior).

Comments:

Reference:

HP:0032527

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032527	HP:0032527	Inferiorly positioned umbilicus	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1	69

Genes (1) :RIPK4

Diseases (1) :OMIM:263650

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