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 nasopharynx morphology (HP:0001739)

Grandparent Node:
Neoplasm of the respiratory system (HP:0100606)

Parent Node:
Neoplasia of the nasopharynx (HP:0100630)

..Starting node
..Neoplasm of the pharynx (HP:0100638)

Term ID:

100638

Name:

Neoplasm of the pharynx

Synonym:

Neoplasia of the pharynx; Pharyngeal neoplasm; Tumor of the pharynx; Tumour of the pharynx

Definition:

A neoplasm originating in the pharynx.

Comments:

Reference:

HP:0100638

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neoplasm of the nose (HP:0012720)

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:0100638	HP:0100638	Neoplasm of the pharynx	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	13
HP:0100638	HP:0100638	Neoplasm of the pharynx	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	134

Genes (2) :PDE11A PRKAR1A

Diseases (1) :ORPHA:1359

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