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 pinna morphology (HP:0000377)

Parent Node:
Abnormal earlobe morphology (HP:0000363)

..Starting node
..Diagonal earlobe crease (HP:0031511)

Term ID:

31511

Name:

Diagonal earlobe crease

Synonym:

Definition:

Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.

Comments:

Reference:

HP:0031511

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior creases of earlobe (HP:0009908)

Aplasia/Hypoplasia of the earlobes (HP:0009906)

Attached earlobe (HP:0009907)

Cleft earlobe (HP:0011265)

Congenital earlobe sinuses (HP:0004461)

Forward facing earlobe (HP:0011263)

Large earlobe (HP:0009748)

Linear earlobe crease (HP:0031510)

Uplifted earlobe (HP:0009909)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031511	HP:0031511	Diagonal earlobe crease	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.