Human Phenotype Ontology

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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:
Abnormality of upper lip vermillion (HP:0011339)

Parent Node:
Eclabion (HP:0012472)

..Starting node
..Everted upper lip vermilion (HP:0010803)

Term ID:

10803

Name:

Everted upper lip vermilion

Synonym:

Drooping upper lip; Eclabium of upper lip; Everted prominent upper lip; Everted upper lip; Outward turned upper lip; Protruding upper lip

Definition:

Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.

Comments:

Reference:

HP:0010803

Genes and Diseases:

Child Nodes:

Sister Nodes:

Everted lower lip vermilion (HP:0000232)

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:0010803	HP:0010803	Everted upper lip vermilion	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	49
HP:0010803	HP:0010803	Everted upper lip vermilion	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	48
HP:0010803	HP:0010803	Everted upper lip vermilion	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	41
HP:0010803	HP:0010803	Everted upper lip vermilion	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	18
HP:0010803	HP:0010803	Everted upper lip vermilion	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0010803	HP:0010803	Everted upper lip vermilion	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0010803	HP:0010803	Everted upper lip vermilion	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0010803	HP:0010803	Everted upper lip vermilion	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0010803	HP:0010803	Everted upper lip vermilion	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0010803	HP:0010803	Everted upper lip vermilion	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0010803	HP:0010803	Everted upper lip vermilion	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0010803	HP:0010803	Everted upper lip vermilion	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0010803	HP:0010803	Everted upper lip vermilion	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0010803	HP:0010803	Everted upper lip vermilion	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010803	HP:0010803	Everted upper lip vermilion	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0010803	HP:0010803	Everted upper lip vermilion	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0010803	HP:0010803	Everted upper lip vermilion	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010803	HP:0010803	Everted upper lip vermilion	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0010803	HP:0010803	Everted upper lip vermilion	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0010803	HP:0010803	Everted upper lip vermilion	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0010803	HP:0010803	Everted upper lip vermilion	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0010803	HP:0010803	Everted upper lip vermilion	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0010803	HP:0010803	Everted upper lip vermilion	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0010803	HP:0010803	Everted upper lip vermilion	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent	8

Genes (22) :AP4B1 AP4E1 AP4M1 AP4S1 CREBBP DNMT3A EDA EDA2R EDAR EDARADD EPG5 GBA1 H4C9 KCNH1 KCNK4 KIF7 MAP1B NAA10 RAI1 SETD1A TCF3 WDR26

Diseases (19) :ORPHA:280763 OMIM:618332 OMIM:615879 OMIM:305100 ORPHA:181 OMIM:224900 OMIM:242840 OMIM:608013 OMIM:619951 ORPHA:420561 OMIM:618381 OMIM:200990 OMIM:618918 ORPHA:276432 OMIM:300855 OMIM:182290 OMIM:619056 OMIM:619824 ORPHA:513456

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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