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:
Squamous cell carcinoma (HP:0002860)

..Starting node
..Oropharyngeal squamous cell carcinoma (HP:0012182)

Term ID:

12182

Name:

Oropharyngeal squamous cell carcinoma

Synonym:

Definition:

A squamous cell carcinoma that originates in the oropharnyx.

Comments:

Reference:

HP:0012182

Genes and Diseases:

Child Nodes:

Sister Nodes:

Squamous cell carcinoma of the skin (HP:0006739)

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:0012182	HP:0012182	Oropharyngeal squamous cell carcinoma	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0012182	HP:0012182	Oropharyngeal squamous cell carcinoma	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0012182	HP:0012182	Oropharyngeal squamous cell carcinoma	0	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.	289
HP:0012182	HP:0012182	Oropharyngeal squamous cell carcinoma	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0012182	HP:0012182	Oropharyngeal squamous cell carcinoma	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0012182	HP:0012182	Oropharyngeal squamous cell carcinoma	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional

Genes (6) :ATR BRD4 CDKN2A NUTM1 STAT1 TOM1

Diseases (4) :OMIM:614564 ORPHA:443167 OMIM:606719 ORPHA:391487

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