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 pinna morphology (HP:0000377)

Parent Node:
Abnormal earlobe morphology (HP:0000363)

..Starting node
..Attached earlobe (HP:0009907)

Term ID:

9907

Name:

Attached earlobe

Synonym:

Adherent earlobe; Attached earlobe

Definition:

Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.

Comments:

Reference:

HP:0009907

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior creases of earlobe (HP:0009908)

Aplasia/Hypoplasia of the earlobes (HP:0009906)

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:0009907	HP:0009907	Attached earlobe	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0009907	HP:0009907	Attached earlobe	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0009907	HP:0009907	Attached earlobe	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009907	HP:0009907	Attached earlobe	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0009907	HP:0009907	Attached earlobe	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0009907	HP:0009907	Attached earlobe	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2

Genes (6) :CDH11 HIVEP2 HS2ST1 NSD2 RDH11 SMG9

Diseases (6) :ORPHA:1299 OMIM:616977 OMIM:619194 OMIM:619695 ORPHA:436245 OMIM:616920

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