Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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
..Large earlobe (HP:0009748)

Term ID:

9748

Name:

Large earlobe

Synonym:

Fleshy earlobe; Fleshy earlobes; Large earlobe; Prominent ear lobes; Prominent ear lobules

Definition:

Increased volume of the earlobe, that is, abnormally prominent ear lobules.

Comments:

Reference:

HP:0009748

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)

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:0009748	HP:0009748	Large earlobe	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009748	HP:0009748	Large earlobe	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0009748	HP:0009748	Large earlobe	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0009748	HP:0009748	Large earlobe	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040281 - Very frequent	2
HP:0009748	HP:0009748	Large earlobe	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0009748	HP:0009748	Large earlobe	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0009748	HP:0009748	Large earlobe	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0009748	HP:0009748	Large earlobe	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0009748	HP:0009748	Large earlobe	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0009748	HP:0009748	Large earlobe	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0009748	HP:0009748	Large earlobe	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0009748	HP:0009748	Large earlobe	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0009748	HP:0009748	Large earlobe	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040283 - Occasional	113
HP:0009748	HP:0009748	Large earlobe	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0009748	HP:0009748	Large earlobe	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0009748	HP:0009748	Large earlobe	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0009748	HP:0009748	Large earlobe	0	PHF6 CL E G H	84295	18145	ORPHA:127	Borjeson-Forssman-Lehmann syndrome	HP:0040281 - Very frequent	29
HP:0009748	HP:0009748	Large earlobe	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0009748	HP:0009748	Large earlobe	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0009748	HP:0009748	Large earlobe	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0009748	HP:0009748	Large earlobe	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0009748	HP:0009748	Large earlobe	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent	166
HP:0009748	HP:0009748	Large earlobe	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0009748	HP:0009748	Large earlobe	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0009748	HP:0009748	Large earlobe	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0009748	HP:0009748	Large earlobe	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0009748	HP:0009748	Large earlobe	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0009748	HP:0009748	Large earlobe	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0009748	HP:0009748	Large earlobe	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0009748	HP:0009748	Large earlobe	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0009748	HP:0009748	Large earlobe	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362

Genes (30) :BICRA BRAF CDH11 DHCR24 DOCK7 DPYD EFTUD2 EIF2S3 ELN FGD1 GJA1 HRAS MLXIPL NOTCH2 OTUD5 PHF6 PIGY PIK3CA PLXNA1 SETBP1 SLC26A2 SMOC1 SPEN TMEM94 TPRKB TRIP12 UGDH VPS53 WDR4 ZEB2

Diseases (30) :OMIM:619325 OMIM:115150 OMIM:613706 ORPHA:1299 ORPHA:35107 ORPHA:411986 ORPHA:1675 ORPHA:79113 ORPHA:85282 OMIM:194050 OMIM:305400 OMIM:257850 ORPHA:3071 OMIM:102500 OMIM:301056 ORPHA:127 OMIM:616809 OMIM:602501 OMIM:619955 ORPHA:798 ORPHA:628 ORPHA:1106 OMIM:619312 OMIM:618316 OMIM:617731 OMIM:617752 OMIM:618792 OMIM:615851 OMIM:618346 OMIM:235730

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen