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
..Cleft earlobe (HP:0011265)

Term ID:

11265

Name:

Cleft earlobe

Synonym:

Cleft earlobe

Definition:

Discontinuity in the convexity of the inferior margin of the lobe.

Comments:

Reference:

HP:0011265

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior creases of earlobe (HP:0009908)

Aplasia/Hypoplasia of the earlobes (HP:0009906)

Attached earlobe (HP:0009907)

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:0011265	HP:0011265	Cleft earlobe	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0011265	HP:0011265	Cleft earlobe	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0011265	HP:0011265	Cleft earlobe	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0011265	HP:0011265	Cleft earlobe	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3

Genes (4) :COX7B HCCS MAN2C1 NDUFB11

Diseases (2) :ORPHA:2556 OMIM:619775

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