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:
Abnormalities of placenta or umbilical cord (HP:0001194)

Parent Node:
Abnormal placenta morphology (HP:0100767)

..Starting node
..Abnormal placental size (HP:0012767)

Term ID:

12767

Name:

Abnormal placental size

Synonym:

Definition:

A deviation from normal size of the placenta.

Comments:

Reference:

HP:0012767

Genes and Diseases:

Child Nodes:

........

Small placenta (HP:0006266)

........

Large placenta (HP:0006267)

................... HP:0011414 Hydropic placenta

Sister Nodes:

Calcified placenta (HP:0011415)

Chorangioma (HP:0100883)

Choriocarcinoma (HP:0100768)

Placental abruption (HP:0011419)

Placental infarction (HP:0011416)

Subchorionic septal cyst (HP:0030720)

Subchorionic thrombohematoma (HP:0030714)

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:0012767	HP:0012767	Abnormal placental size	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation		114
HP:0012767	HP:0012767	Abnormal placental size	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0012767	HP:0012767	Abnormal placental size	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0012767	HP:0012767	Abnormal placental size	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0012767	HP:0012767	Abnormal placental size	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation		2
HP:0012767	HP:0012767	Abnormal placental size	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0012767	HP:0012767	Abnormal placental size	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency		91
HP:0012767	HP:0012767	Abnormal placental size	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation		9
HP:0012767	HP:0012767	Abnormal placental size	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012767	HP:0012767	Abnormal placental size	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0012767	HP:0012767	Abnormal placental size	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation		1
HP:0012767	HP:0012767	Abnormal placental size	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0012767	HP:0012767	Abnormal placental size	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0012767	HP:0012767	Abnormal placental size	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0012767	HP:0012767	Abnormal placental size	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence		72
HP:0012767	HP:0012767	Abnormal placental size	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0012767	HP:0012767	Abnormal placental size	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation		3
HP:0012767	HP:0012767	Abnormal placental size	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0012767	HP:0012767	Abnormal placental size	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0012767	HP:0012767	Abnormal placental size	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0012767	HP:0012767	Abnormal placental size	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0012767	HP:0012767	Abnormal placental size	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0012767	HP:0012767	Abnormal placental size	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0012767	HP:0006266	Small placenta	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0012767	HP:0006267	Large placenta	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0012767	HP:0006267	Large placenta	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0012767	HP:0006267	Large placenta	1	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:0012767	HP:0006266	Small placenta	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0012767	HP:0032548	Increased placental thickness	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional	345
HP:0012767	HP:0006266	Small placenta	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040282 - Frequent	91
HP:0012767	HP:0006266	Small placenta	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0012767	HP:0006267	Large placenta	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0012767	HP:0006267	Large placenta	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0012767	HP:0006266	Small placenta	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0012767	HP:0006267	Large placenta	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent	1
HP:0012767	HP:0006267	Large placenta	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent	1
HP:0012767	HP:0006267	Large placenta	1	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:0012767	HP:0006267	Large placenta	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0012767	HP:0006266	Small placenta	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0012767	HP:0006266	Small placenta	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0012767	HP:0006266	Small placenta	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0012767	HP:0006267	Large placenta	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0012767	HP:0006267	Large placenta	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0012767	HP:0006267	Large placenta	1	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:0012767	HP:0006267	Large placenta	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0012767	HP:0006267	Large placenta	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0012767	HP:0006266	Small placenta	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0012767	HP:0006267	Large placenta	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0012767	HP:0011414	Hydropic placenta	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (16) :CDKN1C DLK1 HMGA2 HSPG2 IGF1 IGF2 LBR LMNA MEG3 MKS1 MUSK PHGDH PLAG1 RTL1 SKIC3 ZMPSTE24

Diseases (13) :ORPHA:397590 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:1865 ORPHA:73272 OMIM:215140 ORPHA:1662 OMIM:249000 OMIM:208150 OMIM:256520 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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