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
..Megakaryocyte nucleus hypolobulation (HP:0031385)

Term ID:

31385

Name:

Megakaryocyte nucleus hypolobulation

Synonym:

Definition:

The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.

Comments:

Reference:

HP:0031385

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)

Megakaryocytopenia (HP:0005548)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031385	HP:0031385	Megakaryocyte nucleus hypolobulation	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0031385	HP:0031385	Megakaryocyte nucleus hypolobulation	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent

Genes (1) :RPS14

Diseases (2) :OMIM:153550 ORPHA:86841

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