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:
Abnormality of the nose (HP:0000366)

Parent Node:
Abnormality of the nasolabial region (HP:0005289)

..Starting node
..Prominent nasolabial fold (HP:0005272)

Term ID:

5272

Name:

Prominent nasolabial fold

Synonym:

Deep laugh lines; Deep nasolabial crease; Deep nasolabial fold; Deep nasolabial groove; Deep smile lines; Nasolabial crease, prominent; Prominent laugh lines; Prominent nasolabial groove; Prominent smile lines

Definition:

Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).

Comments:

Reference:

HP:0005272

Genes and Diseases:

Child Nodes:

Sister Nodes:

Underdeveloped nasolabial fold (HP:0010801)

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:0005272	HP:0005272	Prominent nasolabial fold	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0005272	HP:0005272	Prominent nasolabial fold	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0005272	HP:0005272	Prominent nasolabial fold	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0005272	HP:0005272	Prominent nasolabial fold	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0005272	HP:0005272	Prominent nasolabial fold	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0005272	HP:0005272	Prominent nasolabial fold	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0005272	HP:0005272	Prominent nasolabial fold	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0005272	HP:0005272	Prominent nasolabial fold	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0005272	HP:0005272	Prominent nasolabial fold	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0005272	HP:0005272	Prominent nasolabial fold	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0005272	HP:0005272	Prominent nasolabial fold	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0005272	HP:0005272	Prominent nasolabial fold	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0005272	HP:0005272	Prominent nasolabial fold	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.	1952
HP:0005272	HP:0005272	Prominent nasolabial fold	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0005272	HP:0005272	Prominent nasolabial fold	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.	37
HP:0005272	HP:0005272	Prominent nasolabial fold	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0005272	HP:0005272	Prominent nasolabial fold	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (16) :ATP6V0A2 ATP6V1A ATP6V1E1 CHST14 DSE FOXP1 GNB2 LTBP1 MYBPC1 NAA10 NALCN NF1 SPRED2 TNNI2 TOR1A USP9X

Diseases (14) :ORPHA:357074 ORPHA:2834 ORPHA:2953 ORPHA:391372 OMIM:619503 OMIM:619451 OMIM:618524 OMIM:300855 OMIM:616266 OMIM:601321 OMIM:619745 OMIM:601680 OMIM:618947 ORPHA:480880

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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