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
..Anterior creases of earlobe (HP:0009908)

Term ID:

9908

Name:

Anterior creases of earlobe

Synonym:

Earlobe crease; Transverse earlobe creases

Definition:

Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.

Comments:

Reference:

HP:0009908

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the earlobes (HP:0009906)

Attached earlobe (HP:0009907)

Cleft earlobe (HP:0011265)

Congenital earlobe sinuses (HP:0004461)

Diagonal earlobe crease (HP:0031511)

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	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:0009908	HP:0009908	Anterior creases of earlobe	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0009908	HP:0009908	Anterior creases of earlobe	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0009908	HP:0009908	Anterior creases of earlobe	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0009908	HP:0009908	Anterior creases of earlobe	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0009908	HP:0009908	Anterior creases of earlobe	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional	32

Genes (5) :BRAF GPC3 GPC4 PRR12 TBX1

Diseases (4) :OMIM:115150 OMIM:312870 OMIM:619539 ORPHA:1727

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