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
..U-Shaped upper lip vermilion (HP:0010806)

Term ID:

10806

Name:

U-Shaped upper lip vermilion

Synonym:

Carp-like mouth; Carp-shaped mouth; Fish mouth; Large, carp-shaped mouth; Wide, carp-shaped mouth

Definition:

Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.

Comments:

Reference:

HP:0010806

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent cupid's bow (HP:0010800)

Everted upper lip vermilion (HP:0010803)

Exaggerated cupid's bow (HP:0002263)

Tented upper lip vermilion (HP:0010804)

Thick upper lip vermilion (HP:0000215)

Thin upper lip vermilion (HP:0000219)

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:0010806	HP:0010806	U-Shaped upper lip vermilion	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0010806	HP:0010806	U-Shaped upper lip vermilion	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional	5

Genes (8) :ATRX CDK19 DPM1 EHMT1 MAPK1 OFD1 ZC4H2 ZSWIM6

Diseases (11) :ORPHA:847 OMIM:301040 OMIM:309580 OMIM:618916 ORPHA:79322 OMIM:610253 OMIM:619087 OMIM:300209 OMIM:314580 OMIM:301041 OMIM:603671

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