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:
Anemia due to reduced life span of red cells (HP:0011895)

Parent Node:
Hemolytic anemia (HP:0001878)

..Starting node
..Spontaneous hemolytic crises (HP:0005525)

Term ID:

5525

Name:

Spontaneous hemolytic crises

Synonym:

Definition:

Comments:

Reference:

HP:0005525

Genes and Diseases:

Child Nodes:

Sister Nodes:

Autoimmune hemolytic anemia (HP:0001890)

Chronic hemolytic anemia (HP:0004870)

Cold-induced hemolysis (HP:0031484)

Compensated hemolytic anemia (HP:0004863)

Congenital hemolytic anemia (HP:0004804)

Coombs-positive hemolytic anemia (HP:0004844)

Drug-sensitive hemolytic anemia (HP:0004817)

Episodic hemolytic anemia (HP:0004802)

Exercise-induced hemolysis (HP:0005535)

Fava bean-induced hemolytic anemia (HP:0004814)

Heinz body anemia (HP:0005511)

Increased red cell hemolysis by shear stress (HP:0008269)

Macrocytic hemolytic disease (HP:0005524)

Microangiopathic hemolytic anemia (HP:0001937)

Nonspherocytic hemolytic anemia (HP:0001930)

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:0005525	HP:0005525	Spontaneous hemolytic crises	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0005525	HP:0005525	Spontaneous hemolytic crises	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0005525	HP:0005525	Spontaneous hemolytic crises	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0005525	HP:0005525	Spontaneous hemolytic crises	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255
HP:0005525	HP:0005525	Spontaneous hemolytic crises	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0005525	HP:0005525	Spontaneous hemolytic crises	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0005525	HP:0005525	Spontaneous hemolytic crises	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156

Genes (7) :ANK1 EPB42 GPI SLC2A1 SLC4A1 SPTA1 SPTB

Diseases (3) :ORPHA:822 OMIM:613470 ORPHA:168577

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