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:
Abnormality of urine homeostasis (HP:0003110)

Parent Node:
Hemoglobinuria (HP:0003641)

..Starting node
..Paroxysmal nocturnal hemoglobinuria (HP:0004818)

Term ID:

4818

Name:

Paroxysmal nocturnal hemoglobinuria

Synonym:

Paroxysmal nocturnal haemoglobinuria

Definition:

Comments:

Reference:

HP:0004818

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004818	HP:0004818	Paroxysmal nocturnal hemoglobinuria	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy		3
HP:0004818	HP:0004818	Paroxysmal nocturnal hemoglobinuria	0	PIGA CL E G H	5277	8957	OMIM:300818	Paroxysmal nocturnal hemoglobinuria	.	46
HP:0004818	HP:0004818	Paroxysmal nocturnal hemoglobinuria	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12

Genes (3) :CD59 PIGA PIGT

Diseases (3) :OMIM:612300 OMIM:300818 OMIM:615399

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