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:
Abnormality of the tongue (HP:0000157)

Grandparent Node:
Neoplasm of the oral cavity (HP:0100649)

Parent Node:
Neoplasm of the tongue (HP:0100648)

..Starting node
..Squamous cell carcinoma of the tongue (HP:0030413)

Term ID:

30413

Name:

Squamous cell carcinoma of the tongue

Synonym:

Definition:

A carcinoma derived from a squamous epithelial cell of the tongue.

Comments:

Reference:

HP:0030413

Genes and Diseases:

Child Nodes:

........

Verrucous cell carcinoma of the tongue (HP:0030414)

........

Sarcomatoid carcinoma of the tongue (HP:0030415)

Sister Nodes:

Hamartoma of tongue (HP:0011802)

Lipoma of the tongue (HP:0030815)

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:0030413	HP:0030413	Squamous cell carcinoma of the tongue	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6	1
HP:0030413	HP:0030413	Squamous cell carcinoma of the tongue	0	WRAP53 CL E G H	55135	25522	OMIM:613988	Dyskeratosis congenita, autosomal recessive, 3	40
HP:0030413	HP:0030415	Sarcomatoid carcinoma of the tongue	1	CL E G H
HP:0030413	HP:0030414	Verrucous cell carcinoma of the tongue	1	CL E G H

Genes (2) :MDM4 WRAP53

Diseases (2) :OMIM:618849 OMIM:613988

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