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 upper lip morphology (HP:0000177)

Parent Node:
Abnormality of upper lip vermillion (HP:0011339)

..Starting node
..Exaggerated cupid's bow (HP:0002263)

Term ID:

2263

Name:

Exaggerated cupid's bow

Synonym:

Cupid bow upper lip; Cupid's bow, accentuated; Cupid-bow shaped upper lip; Exaggerated cupid's bow; Prominent cupid-bow of upper lip

Definition:

More pronounced paramedian peaks and median notch of the Cupid's bow.

Comments:

Reference:

HP:0002263

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent cupid's bow (HP:0010800)

Everted upper lip vermilion (HP:0010803)

Tented upper lip vermilion (HP:0010804)

Thick upper lip vermilion (HP:0000215)

Thin upper lip vermilion (HP:0000219)

U-Shaped upper lip vermilion (HP:0010806)

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:0002263	HP:0002263	Exaggerated cupid's bow	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002263	HP:0002263	Exaggerated cupid's bow	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:0002263	HP:0002263	Exaggerated cupid's bow	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:0002263	HP:0002263	Exaggerated cupid's bow	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent	39
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002263	HP:0002263	Exaggerated cupid's bow	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4

Genes (31) :ATP1A2 ATP1A3 B3GLCT CACNA1A CLCN3 DLK1 DNMT3A EXOC2 GPC4 H3-3A HNRNPK HNRNPU KIF7 MED25 MED27 MEG3 NRCAM NXN PIGT RALA ROR2 RTL1 SLC1A3 SLC35A2 SMARCA2 SUPT16H TBCK TMEM94 TRIP12 ZMIZ1 ZNF462

Diseases (28) :ORPHA:2131 ORPHA:709 OMIM:261540 OMIM:619512 ORPHA:254528 OMIM:615879 OMIM:619306 ORPHA:2662 OMIM:301026 OMIM:619720 ORPHA:352665 ORPHA:453504 ORPHA:238769 OMIM:200990 ORPHA:464738 OMIM:619286 OMIM:619833 ORPHA:1507 ORPHA:369837 OMIM:619311 OMIM:300896 OMIM:619293 OMIM:619480 OMIM:616900 OMIM:618316 OMIM:617752 OMIM:618659 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