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 oral mucosa morphology (HP:0011830)

Grandparent Node:
Mucosal telangiectasiae (HP:0100579)

Parent Node:
Abnormal lip morphology (HP:0000159)

Parent Node:
Oral cavity telangiectasia (HP:0000228)

..Starting node
..Lip telangiectasia (HP:0000214)

Term ID:

214

Name:

Lip telangiectasia

Synonym:

Angioectasias of the lip; Labial angioectasias; Labial telangiectasia; Lip telangiectases; Spider veins of the lip; Telangiectasia of the lips

Definition:

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.

Comments:

Reference:

HP:0000214

Genes and Diseases:

Child Nodes:

Sister Nodes:

Palate telangiectasia (HP:0002707)

Telangiectasia of the oral mucosa (HP:0007428)

Tongue telangiectasia (HP:0000227)

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:0000214	HP:0000214	Lip telangiectasia	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0000214	HP:0000214	Lip telangiectasia	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0000214	HP:0000214	Lip telangiectasia	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0000214	HP:0000214	Lip telangiectasia	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040281 - Very frequent	47
HP:0000214	HP:0000214	Lip telangiectasia	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47

Genes (4) :ACVRL1 ENG LBR NAGA

Diseases (5) :OMIM:600376 OMIM:187300 OMIM:613471 ORPHA:79280 OMIM:609242

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