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:
Abnormal lung morphology (HP:0002088)

Parent Node:
Abnormal pleura morphology (HP:0002103)

..Starting node
..Hemothorax (HP:0012151)

Term ID:

12151

Name:

Hemothorax

Synonym:

Definition:

The presence of blood in the pleural space.

Comments:

Reference:

HP:0012151

Genes and Diseases:

Child Nodes:

Sister Nodes:

Neoplasia of the pleura (HP:0100527)

Pleural cyst (HP:0025422)

Pleural effusion (HP:0002202)

Pleural lymphangiectasia (HP:0006531)

Pleuritis (HP:0002102)

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:0012151	HP:0012151	Hemothorax	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0012151	HP:0012151	Hemothorax	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0012151	HP:0012151	Hemothorax	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0012151	HP:0012151	Hemothorax	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0012151	HP:0012151	Hemothorax	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102
HP:0012151	HP:0012151	Hemothorax	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040282 - Frequent	8
HP:0012151	HP:0012151	Hemothorax	0	SERPINF2 CL E G H	5345	9075	OMIM:262850	Plasmin inhibitor deficiency	.	8

Genes (6) :COL3A1 EIF2AK4 ENG EXT1 EXT2 SERPINF2

Diseases (6) :OMIM:130050 ORPHA:199241 OMIM:187300 ORPHA:321 ORPHA:79 OMIM:262850

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