Human Phenotype Ontology 
..Starting node
..expandPlacental mesenchymal dysplasia (HP:0032165)help
Term ID: 32165
Name: Placental mesenchymal dysplasia
Synonym:
Definition: Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.
Comments:
Reference: HP:0032165
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032165HP:0032165Placental mesenchymal dysplasia0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0032165HP:0032165Placental mesenchymal dysplasia0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0032165HP:0032165Placental mesenchymal dysplasia0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0032165HP:0032165Placental mesenchymal dysplasia0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0032165HP:0032165Placental mesenchymal dysplasia0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1


Genes (5) :CDKN1C H19-ICR IGF2 KCNQ1 KCNQ1OT1

Diseases (1) :OMIM:130650
 

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