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:
Acute leukemia (HP:0002488)

Parent Node:
Acute lymphoblastic leukemia (HP:0006721)

..Starting node
..B Acute Lymphoblastic Leukemia (HP:0004812)

Term ID:

4812

Name:

B Acute Lymphoblastic Leukemia

Synonym:

B Acute Lymphoblastic Leukaemia; Pre-B-cell acute lymphoblastic leukaemia; Pre-B-cell acute lymphoblastic leukemia

Definition:

A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.

Comments:

Reference:

HP:0004812

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ph-positive acute lymphoblastic leukemia (HP:0004848)

T-cell acute lymphoblastic leukemias (HP:0006727)

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:0004812	HP:0004812	B Acute Lymphoblastic Leukemia	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B	2

Genes (1) :TCF3

Diseases (1) :OMIM:619824

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