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 lip morphology (HP:0000159)

Parent Node:
Vascular malformation of the lip (HP:0031486)

..Starting node
..Capillary malformation of the lip (HP:0031487)

Term ID:

31487

Name:

Capillary malformation of the lip

Synonym:

Definition:

A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.

Comments:

Reference:

HP:0031487

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arteriovenous malformation of the lip (HP:0031488)

Hemangioma of the lip (HP:0031490)

Venous malformation of the lip (HP:0031489)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031487	HP:0031487	Capillary malformation of the lip	0	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	162

Genes (1) :PIK3CA

Diseases (1) :OMIM:613089

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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