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:
Localized skin lesion (HP:0011355)

Parent Node:
Abnormal lip morphology (HP:0000159)

Parent Node:
Skin pit (HP:0100276)

..Starting node
..Lip pit (HP:0100267)

Term ID:

100267

Name:

Lip pit

Synonym:

Definition:

A depression located on a lip.

Comments:

Reference:

HP:0100267

Genes and Diseases:

Child Nodes:

........

Commissural lip pit (HP:0002710)

........

Paramedian lip pit (HP:0100269)

................... HP:0000196 Lower lip pit
................... HP:0100268 Upper lip pit

Sister Nodes:

Digital pitting scar (HP:0031293)

Palmar pits (HP:0010610)

Periauricular skin pits (HP:0100277)

Plantar pits (HP:0010612)

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:0100267	HP:0100267	Lip pit	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	135
HP:0100267	HP:0100267	Lip pit	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040281 - Very frequent	12
HP:0100267	HP:0100267	Lip pit	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2		12
HP:0100267	HP:0100267	Lip pit	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0100267	HP:0100267	Lip pit	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	99
HP:0100267	HP:0100267	Lip pit	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100267	HP:0100267	Lip pit	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040281 - Very frequent	99
HP:0100267	HP:0100267	Lip pit	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100267	HP:0100267	Lip pit	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0100267	HP:0100267	Lip pit	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100267	HP:0100267	Lip pit	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0100267	HP:0100267	Lip pit	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	12
HP:0100267	HP:0100267	Lip pit	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	4
HP:0100267	HP:0100267	Lip pit	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0100267	HP:0100267	Lip pit	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0100267	HP:0100267	Lip pit	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS		69
HP:0100267	HP:0100267	Lip pit	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	50
HP:0100267	HP:0100267	Lip pit	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100267	HP:0100267	Lip pit	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0100267	HP:0100267	Lip pit	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100267	HP:0100267	Lip pit	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100267	HP:0100267	Lip pit	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional	140
HP:0100267	HP:0100267	Lip pit	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	140
HP:0100267	HP:0100269	Paramedian lip pit	1	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome		12
HP:0100267	HP:0100269	Paramedian lip pit	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100267	HP:0100269	Paramedian lip pit	1	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome		99
HP:0100267	HP:0100269	Paramedian lip pit	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100267	HP:0100269	Paramedian lip pit	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100267	HP:0002710	Commissural lip pit	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0100267	HP:0002710	Commissural lip pit	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.	69
HP:0100267	HP:0002710	Commissural lip pit	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100267	HP:0100269	Paramedian lip pit	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100267	HP:0100269	Paramedian lip pit	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100267	HP:0000196	Lower lip pit	2	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent	12
HP:0100267	HP:0000196	Lower lip pit	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0100267	HP:0000196	Lower lip pit	2	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent	99
HP:0100267	HP:0000196	Lower lip pit	2	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.	99
HP:0100267	HP:0000196	Lower lip pit	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100267	HP:0100268	Upper lip pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional	12
HP:0100267	HP:0000196	Lower lip pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (13) :EYA1 GRHL3 IRF6 KDM6A KMT2D MSX1 NECTIN1 OFD1 RIPK4 SIX1 SMO TFAP2A TP63

Diseases (17) :ORPHA:52429 ORPHA:888 OMIM:606713 ORPHA:1300 ORPHA:141291 OMIM:119500 OMIM:119300 ORPHA:2322 OMIM:300867 ORPHA:2750 ORPHA:1401 OMIM:214350 OMIM:608389 OMIM:601707 ORPHA:1297 OMIM:113620 ORPHA:1072

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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