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 helix morphology (HP:0011039)

Parent Node:
Cleft helix (HP:0009902)

..Starting node
..Cleft at the superior portion of the pinna (HP:0008537)

Term ID:

8537

Name:

Cleft at the superior portion of the pinna

Synonym:

Cleft at the superior portion of the ear

Definition:

Comments:

Reference:

HP:0008537

Genes and Diseases:

Child Nodes:

Sister Nodes:

Darwin notch of helix (HP:0011260)

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:0008537	HP:0008537	Cleft at the superior portion of the pinna	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0008537	HP:0008537	Cleft at the superior portion of the pinna	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82

Genes (2) :GNAI3 PLCB4

Diseases (2) :OMIM:602483 OMIM:614669

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