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

..Starting node
..Increased megakaryocyte colony forming unit count (HP:0034010)

Term ID:

34010

Name:

Increased megakaryocyte colony forming unit count

Synonym:

Definition:

Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.

Comments:

Reference:

HP:0034010

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:0034010	HP:0034010	Increased megakaryocyte colony forming unit count	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2	106

Genes (1) :ANKRD26

Diseases (1) :OMIM:188000

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