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 periauricular region morphology (HP:0000383)

Grandparent Node:
Skin pit (HP:0100276)

Parent Node:
Periauricular skin pits (HP:0100277)

..Starting node
..Preauricular pit (HP:0004467)

Term ID:

4467

Name:

Preauricular pit

Synonym:

Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus

Definition:

Small indentation anterior to the insertion of the ear.

Comments:

Reference:

HP:0004467

Genes and Diseases:

Child Nodes:

Sister Nodes:

Postauricular pit (HP:0004464)

Supraauricular pit (HP:0008606)

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:0004467	HP:0004467	Preauricular pit	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent	150
HP:0004467	HP:0004467	Preauricular pit	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0004467	HP:0004467	Preauricular pit	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0004467	HP:0004467	Preauricular pit	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0004467	HP:0004467	Preauricular pit	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0004467	HP:0004467	Preauricular pit	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0004467	HP:0004467	Preauricular pit	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0004467	HP:0004467	Preauricular pit	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0004467	HP:0004467	Preauricular pit	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent	135
HP:0004467	HP:0004467	Preauricular pit	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0004467	HP:0004467	Preauricular pit	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0004467	HP:0004467	Preauricular pit	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0004467	HP:0004467	Preauricular pit	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0004467	HP:0004467	Preauricular pit	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0004467	HP:0004467	Preauricular pit	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0004467	HP:0004467	Preauricular pit	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0004467	HP:0004467	Preauricular pit	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0004467	HP:0004467	Preauricular pit	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.	87
HP:0004467	HP:0004467	Preauricular pit	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0004467	HP:0004467	Preauricular pit	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.	37
HP:0004467	HP:0004467	Preauricular pit	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0004467	HP:0004467	Preauricular pit	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0004467	HP:0004467	Preauricular pit	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0004467	HP:0004467	Preauricular pit	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004467	HP:0004467	Preauricular pit	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004467	HP:0004467	Preauricular pit	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0004467	HP:0004467	Preauricular pit	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0004467	HP:0004467	Preauricular pit	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0004467	HP:0004467	Preauricular pit	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0004467	HP:0004467	Preauricular pit	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0004467	HP:0004467	Preauricular pit	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.	257
HP:0004467	HP:0004467	Preauricular pit	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0004467	HP:0004467	Preauricular pit	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0004467	HP:0004467	Preauricular pit	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0004467	HP:0004467	Preauricular pit	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0004467	HP:0004467	Preauricular pit	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0004467	HP:0004467	Preauricular pit	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0004467	HP:0004467	Preauricular pit	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0004467	HP:0004467	Preauricular pit	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0004467	HP:0004467	Preauricular pit	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0004467	HP:0004467	Preauricular pit	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0004467	HP:0004467	Preauricular pit	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0004467	HP:0004467	Preauricular pit	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.	90
HP:0004467	HP:0004467	Preauricular pit	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0004467	HP:0004467	Preauricular pit	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0004467	HP:0004467	Preauricular pit	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0004467	HP:0004467	Preauricular pit	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0004467	HP:0004467	Preauricular pit	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0004467	HP:0004467	Preauricular pit	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0004467	HP:0004467	Preauricular pit	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004467	HP:0004467	Preauricular pit	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0004467	HP:0004467	Preauricular pit	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0004467	HP:0004467	Preauricular pit	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent	50
HP:0004467	HP:0004467	Preauricular pit	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0004467	HP:0004467	Preauricular pit	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0004467	HP:0004467	Preauricular pit	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	HP:0040283 - Occasional	50
HP:0004467	HP:0004467	Preauricular pit	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0004467	HP:0004467	Preauricular pit	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0004467	HP:0004467	Preauricular pit	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0004467	HP:0004467	Preauricular pit	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.	32
HP:0004467	HP:0004467	Preauricular pit	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0004467	HP:0004467	Preauricular pit	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0004467	HP:0004467	Preauricular pit	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0004467	HP:0004467	Preauricular pit	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0004467	HP:0004467	Preauricular pit	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0004467	HP:0004467	Preauricular pit	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0004467	HP:0004467	Preauricular pit	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0004467	HP:0004467	Preauricular pit	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.	31
HP:0004467	HP:0004467	Preauricular pit	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (51) :ANK1 B3GLCT CITED2 CPLX1 CTBP1 EDNRA EIF2AK3 EYA1 FGFRL1 FLNA FLT4 GATA4 GATA5 GATA6 GDF1 GJA5 GPC3 GPC4 GSC H4C9 HK1 HNRNPK JAG1 KAT6A KCNJ2 KDM6A KDR KMT2D LETM1 MED12 MID1 MITF NKX2-5 NKX2-6 NPHP3 NSD2 PAX1 POLR1D PPP1CB RAB23 SALL1 SIX1 SPECC1L STAG2 TBX1 TFAP2A UBE2A WBP11 XYLT2 ZFPM2 ZNF462

Diseases (43) :ORPHA:251066 ORPHA:709 OMIM:261540 ORPHA:3303 OMIM:194190 OMIM:616367 OMIM:226980 ORPHA:52429 OMIM:602588 OMIM:113650 OMIM:166780 ORPHA:2792 ORPHA:88630 OMIM:187500 OMIM:312870 OMIM:602471 OMIM:619951 OMIM:618547 ORPHA:352665 ORPHA:453504 ORPHA:457193 OMIM:170390 OMIM:147920 OMIM:301068 ORPHA:2745 OMIM:617306 OMIM:208540 OMIM:615560 OMIM:613717 OMIM:617506 OMIM:201000 OMIM:107480 OMIM:608389 OMIM:605192 OMIM:145420 ORPHA:1519 OMIM:301022 ORPHA:1297 OMIM:113620 ORPHA:163956 OMIM:619227 ORPHA:85194 OMIM:618619

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