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)

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Pulmonary hemorrhage (HP:0040223)

..Starting node
..Recurrent intrapulmonary hemorrhage (HP:0006535)

Term ID:

6535

Name:

Recurrent intrapulmonary hemorrhage

Synonym:

Recurrent bleeding into lungs; Recurrent intrapulmonary haemorrhage; Recurrent pulmonary haemorrhage; Recurrent pulmonary hemorrhage

Definition:

A recurrent hemorrhage occurring within the lung.

Comments:

Reference:

HP:0006535

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diffuse alveolar hemorrhage (HP:0025420)

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:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	65
HP:0006535	HP:0006535	Recurrent intrapulmonary hemorrhage	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional	6

Genes (8) :COL3A1 CTLA4 HLA-DPA1 HLA-DPB1 PRTN3 PTPN22 WAS WIPF1

Diseases (3) :OMIM:130050 ORPHA:900 ORPHA:906

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