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
..Abnormal preimplantation embryonic development (HP:0033335)

Term ID:

33335

Name:

Abnormal preimplantation embryonic development

Synonym:

Definition:

An anomaly in the development of the embryo in a stage prior to implantation.

Comments:

Reference:

HP:0033335

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:0033335	HP:0033335	Abnormal preimplantation embryonic development	0	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0033335	HP:0033335	Abnormal preimplantation embryonic development	0	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0033335	HP:0033335	Abnormal preimplantation embryonic development	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0033335	HP:0033335	Abnormal preimplantation embryonic development	0	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9	2
HP:0033335	HP:0033336	Zygotic cleavage failure	1	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0033335	HP:0033712	Repeated implantation failure	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0033335	HP:4000008	Formation of multiple pronuclei during fertilization	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0033335	HP:0033336	Zygotic cleavage failure	1	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9	2

Genes (4) :BTG4 FBXO43 REC114 TRIP13

Diseases (4) :OMIM:619009 OMIM:619697 OMIM:619176 OMIM:619011

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