Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 respiratory system (HP:0002086)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormality of the larynx (HP:0001600)

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

..Starting node
..Neoplasm of the larynx (HP:0100605)

Term ID:

100605

Name:

Neoplasm of the larynx

Synonym:

Definition:

Comments:

Reference:

HP:0100605

Genes and Diseases:

Child Nodes:

........

Laryngeal carcinoma (HP:0012118)

Sister Nodes:

Neoplasia of the nasopharynx (HP:0100630)

Neoplasia of the pleura (HP:0100527)

Neoplasm of the lung (HP:0100526)

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:0100605	HP:0100605	Neoplasm of the larynx	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0100605	HP:0100605	Neoplasm of the larynx	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	289
HP:0100605	HP:0100605	Neoplasm of the larynx	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	833
HP:0100605	HP:0100605	Neoplasm of the larynx	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	1
HP:0100605	HP:0100605	Neoplasm of the larynx	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0100605	HP:0100605	Neoplasm of the larynx	0	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome		1819
HP:0100605	HP:0100605	Neoplasm of the larynx	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0100605	HP:0100605	Neoplasm of the larynx	0	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome		2162
HP:0100605	HP:0100605	Neoplasm of the larynx	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0100605	HP:0100605	Neoplasm of the larynx	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100605	HP:0100605	Neoplasm of the larynx	0	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0100605	HP:0100605	Neoplasm of the larynx	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100605	HP:0100605	Neoplasm of the larynx	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal		3
HP:0100605	HP:0100605	Neoplasm of the larynx	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare	911
HP:0100605	HP:0012118	Laryngeal carcinoma	1	MLH1 CL E G H	4292	7127	OMIM:158320	Muir-Torre syndrome	.	1819
HP:0100605	HP:0012118	Laryngeal carcinoma	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	1819
HP:0100605	HP:0012118	Laryngeal carcinoma	1	MSH2 CL E G H	4436	7325	OMIM:158320	Muir-Torre syndrome	.	2162
HP:0100605	HP:0012118	Laryngeal carcinoma	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2162
HP:0100605	HP:0012118	Laryngeal carcinoma	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2232
HP:0100605	HP:0033001	Laryngeal papilloma	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100605	HP:0033001	Laryngeal papilloma	1	NLRP1 CL E G H	22861	14374	OMIM:618803	RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL; JRRP		37
HP:0100605	HP:0033001	Laryngeal papilloma	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0100605	HP:0012118	Laryngeal carcinoma	1	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3

Genes (11) :CAT CDKN2A CHEK2 MDM2 MLH1 MSH2 MSH6 NLRP1 PORCN RSPO1 TP53

Diseases (8) :ORPHA:926 ORPHA:524 ORPHA:587 OMIM:158320 OMIM:617388 OMIM:618803 OMIM:305600 OMIM:610644

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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