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:
Capillary malformation (HP:0025104)

Grandparent Node:
Nevus (HP:0003764)

Parent Node:
Nevus flammeus (HP:0001052)

..Starting node
..Naevus flammeus of the eyelid (HP:0010733)

Term ID:

10733

Name:

Naevus flammeus of the eyelid

Synonym:

Port-wine stain on eyelid

Definition:

Naevus flammeus localised in the skin of the eyelid.

Comments:

Reference:

HP:0010733

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nevus flammeus nuchae (HP:0007616)

Nevus flammeus of the forehead (HP:0007413)

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:0010733	HP:0010733	Naevus flammeus of the eyelid	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0010733	HP:0010733	Naevus flammeus of the eyelid	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040283 - Occasional	164
HP:0010733	HP:0010733	Naevus flammeus of the eyelid	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010733	HP:0010733	Naevus flammeus of the eyelid	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010733	HP:0010733	Naevus flammeus of the eyelid	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010733	HP:0010733	Naevus flammeus of the eyelid	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010733	HP:0010733	Naevus flammeus of the eyelid	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (7) :ASXL1 DIS3L2 DVL1 DVL3 FZD2 PUF60 WNT5A

Diseases (4) :ORPHA:97297 ORPHA:2849 ORPHA:3107 ORPHA:508488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.