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 lip morphology (HP:0000159)

Parent Node:
Cheilitis (HP:0100825)

..Starting node
..Angular cheilitis (HP:0030318)

Term ID:

30318

Name:

Angular cheilitis

Synonym:

Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth

Definition:

A type of inflammation of the lips involving one or both of the corners of the mouth.

Comments:

Reference:

HP:0030318

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0030318	HP:0030318	Angular cheilitis	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	25
HP:0030318	HP:0030318	Angular cheilitis	0	CAST CL E G H	831	1515	OMIM:616295	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	.	4
HP:0030318	HP:0030318	Angular cheilitis	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040283 - Occasional	273
HP:0030318	HP:0030318	Angular cheilitis	0	DSC3 CL E G H	1825	3037	OMIM:613102	HYPOTRICHOSIS AND RECURRENT SKIN VESICLES		2
HP:0030318	HP:0030318	Angular cheilitis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0030318	HP:0030318	Angular cheilitis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0030318	HP:0030318	Angular cheilitis	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare	27
HP:0030318	HP:0030318	Angular cheilitis	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare	23
HP:0030318	HP:0030318	Angular cheilitis	0	KRT17 CL E G H	3872	6427	OMIM:167210	Pachyonychia congenita 2		23
HP:0030318	HP:0030318	Angular cheilitis	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare	41
HP:0030318	HP:0030318	Angular cheilitis	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040284 - Very rare	4
HP:0030318	HP:0030318	Angular cheilitis	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2		1

Genes (11) :AMN CAST CUBN DSC3 GJB2 GJB6 KRT16 KRT17 KRT6A KRT6B SREBF1

Diseases (7) :ORPHA:35858 OMIM:616295 OMIM:613102 ORPHA:477 ORPHA:2309 OMIM:167210 OMIM:619016

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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