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:
Abnormal erythrocyte morphology (HP:0001877)

Parent Node:
Blood group antigen abnormality (HP:0010970)

..Starting node
..Absence of Lutheran antigen on erythrocytes (HP:0010971)

Term ID:

10971

Name:

Absence of Lutheran antigen on erythrocytes

Synonym:

Definition:

Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.

Comments:

Reference:

HP:0010971

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010971	HP:0010971	Absence of Lutheran antigen on erythrocytes	0	KLF1 CL E G H	10661	6345	OMIM:111150	BLOOD GROUP--LUTHERAN INHIBITOR; INLU	42

Genes (1) :KLF1

Diseases (1) :OMIM:111150

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