Human Phenotype Ontology 
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormal posterior eye segment morphology (HP:0004329)help
..Starting node
..expand
Abnormal vitreous humor morphology (HP:0004327)help
Term ID: 4327
Name: Abnormal vitreous humor morphology
Synonym:
Definition: Any structural anomaly of the vitreous body.
Comments:
Reference: HP:0004327
Genes and Diseases:
 
       Child Nodes:
........expandPosterior vitreous detachment (HP:0001489) help
........expandPeripheral vitreous opacities (HP:0007710) help
........expandVitreoretinopathy (HP:0007773) help
................... HP:0007964 Degenerative vitreoretinopathy
................... HP:0030490 Exudative vitreoretinopathy
................... HP:0030673 Erosive vitreoretinopathy
........expandAmyloid deposition in the vitreous humor (HP:0007841) help
........expandVitreous hemorrhage (HP:0007902) help
........expandRemnants of the hyaloid vascular system (HP:0007968) help
................... HP:0009922 Vascular remnant arising from the disc
................... HP:0030742 Glial remnants posterior to lens
................... HP:0030743 Glial remnants anterior to the optic disc
................... HP:0030744 Hyaloid vascular remnant and retrolental mass
........expandVitritis (HP:0011531) help
................... HP:0030652 Vitreous haze
................... HP:0030661 Vitreous snowballs
................... HP:0030662 Vitreous inflammatory cells
........expandOptically empty vitreous (HP:0030663) help
........expandAsteroid hyalosis (HP:0030672) help
........expandMembranous vitreous appearance (HP:0031153) help
........expandBeaded vitreous appearance (HP:0031154) help
........expandVitreous floaters (HP:0100832) help
................... HP:0030832 Vitreous strands

 Sister Nodes: 
..expandAbnormal fundus morphology (HP:0001098) help
..expandAbnormal posterior segment imaging (HP:0030601) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004327HP:0004327Abnormal vitreous humor morphology0COL11A1 CL E G H130190654ORPHA11062186120280
HP:0004327HP:0004327Abnormal vitreous humor morphology0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11062186120280
HP:0004327HP:0004327Abnormal vitreous humor morphology0COL2A1 CL E G H128090653ORPHA15702200120140
HP:0004327HP:0004327Abnormal vitreous humor morphology0COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM15702200120140
HP:0004327HP:0004327Abnormal vitreous humor morphology1COL11A1 CL E G H130190654ORPHA11062186120280
HP:0004327HP:0004327Abnormal vitreous humor morphology1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11062186120280
HP:0004327HP:0004327Abnormal vitreous humor morphology1COL2A1 CL E G H128090653ORPHA15702200120140
HP:0004327HP:0004327Abnormal vitreous humor morphology1COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM15702200120140
HP:0004327HP:0004327Abnormal vitreous humor morphology2COL11A1 CL E G H130190654ORPHA11062186120280
HP:0004327HP:0004327Abnormal vitreous humor morphology2COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11062186120280
HP:0004327HP:0004327Abnormal vitreous humor morphology2COL2A1 CL E G H128090653ORPHA15702200120140
HP:0004327HP:0004327Abnormal vitreous humor morphology2COL2A1 CL E G H1280609508Stickler syndrome, type I, nonsyndromic ocular609508C1836080OMIM15702200120140
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (38) :ARL3 ATOH7 BAP1 BCOR BEST1 CAPN5 COL11A1 COL18A1 COL2A1 COL9A1 COL9A2 COL9A3 COX7B CRB1 CRPPA CTNNB1 CYSLTR2 ERBB3 FZD4 GNA11 GNAQ HCCS HLA-A KCNJ13 LRP5 NDP NDUFB11 NR2E3 P3H2 PAX6 PROC RB1 RS1 SF3B1 TSPAN12 TTR VCAN ZNF408

Diseases (47) :90654 604841 90653 609508 618173 221900 39044 300166 193220 193235 250984 560 154780 1571 267750 485 132450 183900 614284 2556 172870 614643 617572 90050 133780 179 193230 601813 259770 649 305390 268100 137902 120200 612304 180200 312700 85447 105210 143200 616468 614134 615075 607598 2788 614292 613310
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.