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 helix morphology (HP:0011039)

Parent Node:
Cleft helix (HP:0009902)

..Starting node
..Darwin notch of helix (HP:0011260)

Term ID:

11260

Name:

Darwin notch of helix

Synonym:

Helix, Darwin notch

Definition:

Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.

Comments:

Reference:

HP:0011260

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011260	HP:0011260	Darwin notch of helix	0	CL E G H

Genes (0) :

Diseases (0) :

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