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

..Starting node
..Pleural thickening (HP:0031944)

Term ID:

31944

Name:

Pleural thickening

Synonym:

Pleural incrassation

Definition:

An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.

Comments:

Reference:

HP:0031944

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0031944	HP:0031944	Pleural thickening	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0031944	HP:0031944	Pleural thickening	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0031944	HP:0031944	Pleural thickening	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional	7

Genes (3) :CARD10 MDFIC SLC34A2

Diseases (3) :OMIM:619632 OMIM:620014 ORPHA:60025

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