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:
Neoplasm of the skin (HP:0008069)

Parent Node:
Abnormality of facial soft tissue (HP:0011799)

Parent Node:
Papilloma (HP:0012740)

..Starting node
..Facial papilloma (HP:0040167)

Term ID:

40167

Name:

Facial papilloma

Synonym:

Facial verruca; Facial wart

Definition:

Comments:

Reference:

HP:0040167

Genes and Diseases:

Child Nodes:

Sister Nodes:

Choroid plexus papilloma (HP:0200022)

Squamous Papilloma (HP:0031021)

Verrucae (HP:0200043)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040167	HP:0040167	Facial papilloma	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78

Genes (1) :TPP2

Diseases (1) :OMIM:619220

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