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
..Episodic hemolytic anemia (HP:0004802)

Term ID:

4802

Name:

Episodic hemolytic anemia

Synonym:

Episodic hemolysis; Episodic hemolytic anaemia

Definition:

A form of hemolytic anemia that occurs in repeated episodes.

Comments:

Reference:

HP:0004802

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)

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)

Spontaneous hemolytic crises (HP:0005525)

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:0004802	HP:0004802	Episodic hemolytic anemia	0	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040284 - Very rare	20
HP:0004802	HP:0004802	Episodic hemolytic anemia	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0004802	HP:0004802	Episodic hemolytic anemia	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1

Genes (3) :ABCB6 ABCG8 SLC19A1

Diseases (3) :ORPHA:90044 OMIM:210250 OMIM:601775

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