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:
Leukemia (HP:0001909)

Parent Node:
Acute leukemia (HP:0002488)

..Starting node
..Acute promyelocytic leukemia (HP:0004836)

Term ID:

4836

Name:

Acute promyelocytic leukemia

Synonym:

Acute promyelocytic leukaemia

Definition:

A type of acute myeloid leukemia in which abnormal promyelocytes predominate.

Comments:

Reference:

HP:0004836

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acute lymphoblastic leukemia (HP:0006721)

Acute megakaryocytic leukemia (HP:0006733)

Acute monocytic leukemia (HP:0004845)

Acute myeloid leukemia (HP:0004808)

Acute myelomonocytic leukemia (HP:0004820)

Biphenotypic acute leukemia (HP:0005531)

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:0004836	HP:0004836	Acute promyelocytic leukemia	0	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia	.
HP:0004836	HP:0004836	Acute promyelocytic leukemia	0	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia	.	2
HP:0004836	HP:0004836	Acute promyelocytic leukemia	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164

Genes (3) :NUMA1 RARA SMPD1

Diseases (2) :OMIM:612376 ORPHA:77293

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