Human Phenotype Ontology 
Grandparent Node:
expandAbnormal posterior eye segment morphology (HP:0004329)help
Parent Node:
expandAbnormal vitreous humor morphology (HP:0004327)help
..Starting node
..expandRemnants of the hyaloid vascular system (HP:0007968)help
Term ID: 7968
Name: Remnants of the hyaloid vascular system
Synonym: Congenital retinal septum; Persistent fetal vasculature; Persistent foetal vasculature; Persistent hyperplasia of primary vitreous; Persistent hyperplastic primary vitreous; Persistent hypertrophic primary vitreous; Persistent posterior fetal fibrovascular sheath of the lens; Persistent posterior foetal fibrovascular sheath of the lens; Persistent tunica vasculosa lentis
Definition: Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
Comments:
Reference: HP:0007968
Genes and Diseases:
 
       Child Nodes:
........expandVascular remnant arising from the disc (HP:0009922) help
........expandGlial remnants posterior to lens (HP:0030742) help
........expandGlial remnants anterior to the optic disc (HP:0030743) help
........expandHyaloid vascular remnant and retrolental mass (HP:0030744) help

 Sister Nodes: 
..expandAmyloid deposition in the vitreous humor (HP:0007841) help
..expandAsteroid hyalosis (HP:0030672) help
..expandBeaded vitreous appearance (HP:0031154) help
..expandMembranous vitreous appearance (HP:0031153) help
..expandOptically empty vitreous (HP:0030663) help
..expandPeripheral vitreous opacities (HP:0007710) help
..expandPosterior vitreous detachment (HP:0001489) help
..expandVitreoretinopathy (HP:0007773) help
..expandVitreous floaters (HP:0100832) help
..expandVitreous hemorrhage (HP:0007902) help
..expandVitritis (HP:0011531) 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:0007968HP:0007968Remnants of the hyaloid vascular system0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0007968HP:0007968Remnants of the hyaloid vascular system0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0007968HP:0007968Remnants of the hyaloid vascular system0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0007968HP:0007968Remnants of the hyaloid vascular system0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0007968HP:0007968Remnants of the hyaloid vascular system0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0007968HP:0007968Remnants of the hyaloid vascular system0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0007968HP:0007968Remnants of the hyaloid vascular system0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0007968HP:0007968Remnants of the hyaloid vascular system0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0007968HP:0007968Remnants of the hyaloid vascular system0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040284 - Very rare220
HP:0007968HP:0007968Remnants of the hyaloid vascular system0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0007968HP:0007968Remnants of the hyaloid vascular system0PAX6 CL E G H50808620OMIM:165550OPTIC NERVE HYPOPLASIA, BILATERAL194
HP:0007968HP:0007968Remnants of the hyaloid vascular system0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0007968HP:0007968Remnants of the hyaloid vascular system0SIX3 CL E G H649610889OMIM:157170Holoprosencephaly 232
HP:0007968HP:0009922Vascular remnant arising from the disc1 CL E G H
HP:0007968HP:0030742Glial remnants posterior to lens1 CL E G H
HP:0007968HP:0030744Hyaloid vascular remnant and retrolental mass1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0007968HP:0030743Glial remnants anterior to the optic disc1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0007968HP:0030744Hyaloid vascular remnant and retrolental mass1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0007968HP:0030743Glial remnants anterior to the optic disc1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0007968HP:0030744Hyaloid vascular remnant and retrolental mass1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0007968HP:0030743Glial remnants anterior to the optic disc1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39


Genes (10) :ATOH7 BCOR CRPPA FZD4 LAMB2 NDP NF2 PAX6 PRR12 SIX3

Diseases (11) :ORPHA:91495 OMIM:221900 OMIM:300166 OMIM:614643 OMIM:609049 ORPHA:649 ORPHA:637 OMIM:120200 OMIM:165550 OMIM:619539 OMIM:157170
 

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