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)

Parent Node:
Myeloid leukemia (HP:0012324)

..Starting node
..Acute myelomonocytic leukemia (HP:0004820)

Term ID:

4820

Name:

Acute myelomonocytic leukemia

Synonym:

Acute myelomonocytic leukaemia

Definition:

An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.

Comments:

Reference:

HP:0004820

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic myelomonocytic leukemia (HP:0012325)

Juvenile myelomonocytic leukemia (HP:0012209)

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:0004820	HP:0004820	Acute myelomonocytic leukemia	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004820	HP:0004820	Acute myelomonocytic leukemia	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0004820	HP:0004820	Acute myelomonocytic leukemia	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4

Genes (2) :IDH1 SAMD9L

Diseases (3) :ORPHA:99646 OMIM:159550 ORPHA:2585

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