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:
Abnormal placenta morphology (HP:0100767)

Parent Node:
Abnormal placental size (HP:0012767)

..Starting node
..Small placenta (HP:0006266)

Term ID:

6266

Name:

Small placenta

Synonym:

Small placenta

Definition:

Reduced size of the placenta.

Comments:

Reference:

HP:0006266

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large placenta (HP:0006267)

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:0006266	HP:0006266	Small placenta	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0006266	HP:0006266	Small placenta	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0006266	HP:0006266	Small placenta	0	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:0006266	HP:0006266	Small placenta	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0006266	HP:0006266	Small placenta	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0006266	HP:0006266	Small placenta	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0006266	HP:0006266	Small placenta	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0006266	HP:0006266	Small placenta	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0006266	HP:0006266	Small placenta	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83

Genes (9) :CDKN1C HMGA2 IGF1 IGF2 LMNA MUSK PHGDH PLAG1 ZMPSTE24

Diseases (5) :ORPHA:397590 ORPHA:73272 ORPHA:1662 OMIM:208150 OMIM:256520

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