Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Abnormal bleeding (HP:0001892)

Grandparent Node:
Abnormality of blood circulation (HP:0011028)

Parent Node:
Abnormal lung morphology (HP:0002088)

Parent Node:
Internal hemorrhage (HP:0011029)

..Starting node
..Pulmonary hemorrhage (HP:0040223)

Term ID:

40223

Name:

Pulmonary hemorrhage

Synonym:

Intrapulmonary haemorrhage; Intrapulmonary hemorrhage; Pulmonary haemorrhage

Definition:

Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.

Comments:

Reference:

HP:0040223

Genes and Diseases:

Child Nodes:

........

Recurrent intrapulmonary hemorrhage (HP:0006535)

........

Diffuse alveolar hemorrhage (HP:0025420)

Sister Nodes:

Antepartum hemorrhage (HP:0025328)

Gastrointestinal hemorrhage (HP:0002239)

Hemorrhage of the eye (HP:0011885)

Intracranial hemorrhage (HP:0002170)

Joint hemorrhage (HP:0005261)

Muscle hemorrhage (HP:0040242)

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:0040223	HP:0040223	Pulmonary hemorrhage	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0040223	HP:0040223	Pulmonary hemorrhage	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0040223	HP:0032990	Localized pulmonary hemorrhage	1	CL E G H
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0040223	HP:0006535	Recurrent intrapulmonary hemorrhage	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6
HP:0040223	HP:0025420	Diffuse alveolar hemorrhage	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1

Genes (31) :BCOR COL3A1 COPA CTCF CTLA4 EIF2AK4 ENG FIP1L1 HLA-DPA1 HLA-DPB1 HMOX1 IRF2BP2 NABP1 NLRC4 NPM1 NUMA1 PML PRKAR1A PRTN3 PTPN22 RARA SLC35A1 SLC7A7 SP110 STAT3 STAT5B TBL1XR1 WAS WIPF1 ZBTB16 ZNFX1

Diseases (15) :ORPHA:520 OMIM:130050 OMIM:616414 ORPHA:363611 ORPHA:900 ORPHA:199241 OMIM:187300 OMIM:614034 OMIM:616050 OMIM:603585 ORPHA:238459 OMIM:222700 ORPHA:79124 ORPHA:906 OMIM:619644

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen