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:
Capillary malformation (HP:0025104)

Grandparent Node:
Nevus (HP:0003764)

Parent Node:
Nevus flammeus (HP:0001052)

..Starting node
..Nevus flammeus of the forehead (HP:0007413)

Term ID:

7413

Name:

Nevus flammeus of the forehead

Synonym:

Port-wine stain on forehead

Definition:

Naevus flammeus localised in the skin of the forehead.

Comments:

Reference:

HP:0007413

Genes and Diseases:

Child Nodes:

Sister Nodes:

Naevus flammeus of the eyelid (HP:0010733)

Nevus flammeus nuchae (HP:0007616)

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:0007413	HP:0007413	Nevus flammeus of the forehead	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040281 - Very frequent	43
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0007413	HP:0007413	Nevus flammeus of the forehead	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10

Genes (7) :ASXL2 CDK10 CDK13 LBR MED25 PLP1 RBM8A

Diseases (8) :OMIM:617190 OMIM:617694 OMIM:617360 OMIM:618019 ORPHA:464738 ORPHA:280229 ORPHA:3320 OMIM:274000

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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