Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal placenta morphology (HP:0100767)

Parent Node:
Abnormal placental size (HP:0012767)

..Starting node
..Large placenta (HP:0006267)

Term ID:

6267

Name:

Large placenta

Synonym:

Large placenta; Placental enlargement

Definition:

Increased size of the placenta.

Comments:

Reference:

HP:0006267

Genes and Diseases:

Child Nodes:

........

Hydropic placenta (HP:0011414)

Sister Nodes:

Small placenta (HP:0006266)

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:0006267	HP:0006267	Large placenta	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0006267	HP:0006267	Large placenta	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0006267	HP:0006267	Large placenta	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0006267	HP:0006267	Large placenta	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0006267	HP:0006267	Large placenta	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0006267	HP:0006267	Large placenta	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0006267	HP:0006267	Large placenta	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0006267	HP:0006267	Large placenta	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent	1
HP:0006267	HP:0006267	Large placenta	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0006267	HP:0006267	Large placenta	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0006267	HP:0006267	Large placenta	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0006267	HP:0006267	Large placenta	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0006267	HP:0006267	Large placenta	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0006267	HP:0006267	Large placenta	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0006267	HP:0006267	Large placenta	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0006267	HP:0011414	Hydropic placenta	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (8) :DLK1 LBR LMNA MEG3 MKS1 RTL1 SKIC3 ZMPSTE24

Diseases (8) :ORPHA:254534 ORPHA:254528 ORPHA:96334 OMIM:215140 ORPHA:1662 OMIM:249000 OMIM:222470 OMIM:275210

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

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