Human Phenotype Ontology 
Grandparent Node:
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Abnormal vitreous humor morphology (HP:0004327)help
Parent Node:
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Remnants of the hyaloid vascular system (HP:0007968)help
..Starting node
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Hyaloid vascular remnant and retrolental mass (HP:0030744)help
Term ID: 30744
Name: Hyaloid vascular remnant and retrolental mass
Synonym:
Definition: A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.
Comments:
Reference: HP:0030744
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGlial remnants anterior to the optic disc (HP:0030743) help
..expandGlial remnants posterior to lens (HP:0030742) help
..expandVascular remnant arising from the disc (HP:0009922) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030744HP:0030744Hyaloid vascular remnant and retrolental mass0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0030744HP:0030744Hyaloid vascular remnant and retrolental mass0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0030744HP:0030744Hyaloid vascular remnant and retrolental mass0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39


Genes (3) :ATOH7 FZD4 NDP

Diseases (1) :ORPHA:91495
 

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