Human Phenotype Ontology

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

Parent Node:
Hemolytic anemia (HP:0001878)

..Starting node
..Nonspherocytic hemolytic anemia (HP:0001930)

Term ID:

1930

Name:

Nonspherocytic hemolytic anemia

Synonym:

Nonspherocytic hemolytic anaemia

Definition:

Comments:

Reference:

HP:0001930

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)

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:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.	50
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	HBA1 CL E G H	3039	4823	OMIM:140700	Heinz body anemias	.	200
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	HBA2 CL E G H	3040	4824	OMIM:140700	Heinz body anemias	.	88
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	HBB CL E G H	3043	4827	OMIM:140700	Heinz body anemias	.	580
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.	11
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent	3
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent	36
HP:0001930	HP:0001930	Nonspherocytic hemolytic anemia	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040281 - Very frequent	109

Genes (9) :ALDOA GPI HBA1 HBA2 HBB HK1 KCNN4 PIEZO1 SLC4A1

Diseases (5) :OMIM:611881 OMIM:613470 OMIM:140700 OMIM:235700 ORPHA:3202

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