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:
Abnormal pleura morphology (HP:0002103)

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

..Starting node
..Neoplasia of the pleura (HP:0100527)

Term ID:

100527

Name:

Neoplasia of the pleura

Synonym:

Definition:

Comments:

Reference:

HP:0100527

Genes and Diseases:

Child Nodes:

........

Pleural mesothelioma (HP:0100002)

........

Pleuropulmonary blastoma (HP:0100528)

Sister Nodes:

Neoplasia of the nasopharynx (HP:0100630)

Neoplasm of the larynx (HP:0100605)

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:0100527	HP:0100527	Neoplasia of the pleura	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0100527	HP:0100527	Neoplasia of the pleura	0	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100527	HP:0100527	Neoplasia of the pleura	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100527	HP:0100527	Neoplasia of the pleura	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0100527	HP:0100527	Neoplasia of the pleura	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional
HP:0100527	HP:0100527	Neoplasia of the pleura	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040283 - Occasional	1
HP:0100527	HP:0100002	Pleural mesothelioma	1	CL E G H
HP:0100527	HP:0100528	Pleuropulmonary blastoma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0100527	HP:0100528	Pleuropulmonary blastoma	1	DICER1 CL E G H	23405	17098	OMIM:601200	PLEUROPULMONARY BLASTOMA; PPB		670
HP:0100527	HP:0100528	Pleuropulmonary blastoma	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0100527	HP:0100528	Pleuropulmonary blastoma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent

Genes (4) :DICER1 KEAP1 NAB2 STAT6

Diseases (4) :ORPHA:276399 OMIM:601200 OMIM:180295 ORPHA:2126

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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