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
..Zygotic cleavage failure (HP:0033336)

Term ID:

33336

Name:

Zygotic cleavage failure

Synonym:

Failure of zygotic cell division

Definition:

Failure of a fertilized oocyte to undergo the first round of cell division.

Comments:

Reference:

HP:0033336

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:0033336	HP:0033336	Zygotic cleavage failure	0	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0033336	HP:0033336	Zygotic cleavage failure	0	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9	2

Genes (2) :BTG4 TRIP13

Diseases (2) :OMIM:619009 OMIM:619011

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