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:
Abnormality of bone marrow cell morphology (HP:0005561)

Parent Node:
Abnormal megakaryocyte morphology (HP:0012143)

..Starting node
..Megakaryocytopenia (HP:0005548)

Term ID:

5548

Name:

Megakaryocytopenia

Synonym:

Definition:

A reduced count of megakaryocytes.

Comments:

Reference:

HP:0005548

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased megakaryocyte count (HP:0005513)

Increased micromegakaryocyte count (HP:0031386)

Increased multinucleated megakaryocyte count (HP:0031387)

Megakaryocyte dysplasia (HP:0031689)

Megakaryocyte nucleus hyperlobulation (HP:0031388)

Megakaryocyte nucleus hypolobulation (HP:0031385)

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:0005548	HP:0005548	Megakaryocytopenia	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0005548	HP:0005548	Megakaryocytopenia	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0005548	HP:0005548	Megakaryocytopenia	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0005548	HP:0005548	Megakaryocytopenia	0	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.	97
HP:0005548	HP:0005548	Megakaryocytopenia	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (5) :GNA14 HOXA11 KIF15 MPL ZNFX1

Diseases (5) :ORPHA:1063 OMIM:605432 OMIM:619981 OMIM:604498 OMIM:619644

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