Human Phenotype Ontology

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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
..Uplifted earlobe (HP:0009909)

Term ID:

9909

Name:

Uplifted earlobe

Synonym:

Fleshy upturned lobules; Lobe, uplifted; Uplifted earlobe; Uplifted earlobes; Upturned earlobe; Upturned earlobes

Definition:

An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.

Comments:

Reference:

HP:0009909

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)

Diagonal earlobe crease (HP:0031511)

Forward facing earlobe (HP:0011263)

Large earlobe (HP:0009748)

Linear earlobe crease (HP:0031510)

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:0009909	HP:0009909	Uplifted earlobe	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0009909	HP:0009909	Uplifted earlobe	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	.	36
HP:0009909	HP:0009909	Uplifted earlobe	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6	.	38
HP:0009909	HP:0009909	Uplifted earlobe	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009909	HP:0009909	Uplifted earlobe	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0009909	HP:0009909	Uplifted earlobe	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0009909	HP:0009909	Uplifted earlobe	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0009909	HP:0009909	Uplifted earlobe	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0009909	HP:0009909	Uplifted earlobe	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0009909	HP:0009909	Uplifted earlobe	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome		37
HP:0009909	HP:0009909	Uplifted earlobe	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0009909	HP:0009909	Uplifted earlobe	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0009909	HP:0009909	Uplifted earlobe	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009909	HP:0009909	Uplifted earlobe	0	SMARCD1 CL E G H	6602	11106	OMIM:618779	COFFIN-SIRIS SYNDROME 11; CSS11
HP:0009909	HP:0009909	Uplifted earlobe	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent	22
HP:0009909	HP:0009909	Uplifted earlobe	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0009909	HP:0009909	Uplifted earlobe	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0009909	HP:0009909	Uplifted earlobe	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362

Genes (15) :AHDC1 BMP4 CDC42BPB EHMT1 GRIA3 IL1RAPL1 KMT2C MAPRE2 NR2F1 PIGB PIGQ SIN3A SMARCD1 TBL1XR1 ZEB2

Diseases (17) :ORPHA:412069 OMIM:615829 OMIM:607932 OMIM:619841 ORPHA:261652 ORPHA:364028 OMIM:300143 OMIM:616734 OMIM:615722 OMIM:618580 OMIM:618548 OMIM:613406 OMIM:618779 ORPHA:487825 OMIM:235730 ORPHA:261552 ORPHA:261537

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

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