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 placental size (HP:0012767)

Parent Node:
Large placenta (HP:0006267)

..Starting node
..Hydropic placenta (HP:0011414)

Term ID:

11414

Name:

Hydropic placenta

Synonym:

Hydrops of the placenta

Definition:

An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.

Comments:

Reference:

HP:0011414

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0011414	HP:0011414	Hydropic placenta	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (1) :ZMPSTE24

Diseases (1) :OMIM:275210

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