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
..Diffuse alveolar hemorrhage (HP:0025420)

Term ID:

25420

Name:

Diffuse alveolar hemorrhage

Synonym:

Diffuse alveolar haemorrhage

Definition:

A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.

Comments:

Reference:

HP:0025420

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent intrapulmonary hemorrhage (HP:0006535)

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:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0025420	HP:0025420	Diffuse alveolar hemorrhage	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1

Genes (17) :BCOR COL3A1 EIF2AK4 FIP1L1 HMOX1 IRF2BP2 NABP1 NLRC4 NPM1 NUMA1 PML PRKAR1A RARA STAT3 STAT5B TBL1XR1 ZBTB16

Diseases (5) :ORPHA:520 OMIM:130050 ORPHA:199241 OMIM:614034 OMIM:616050

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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