Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye morphology (HP:0012372)help
Parent Node:
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Abnormality of the vasculature (HP:0002597)help
Parent Node:
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obsolete Abnormal globe morphology (HP:0012374)help
..Starting node
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Abnormality of the vasculature of the eye (HP:0008047)help
Term ID: 8047
Name: Abnormality of the vasculature of the eye
Synonym: Abnormality of eye blood vessels
Definition:
Comments:
Reference: HP:0008047
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal iris vasculature (HP:0007905) help
................... HP:0011497 Iris neovascularization
................... HP:0012635 Iris hypoperfusion
................... HP:0025319 Rubeosis iridis
........expandAbnormality of the retinal vasculature (HP:0008046) help
................... HP:0000630 Abnormal retinal artery morphology
................... HP:0000660 Lipemia retinalis
................... HP:0001095 Hypertensive retinopathy
................... HP:0007685 Peripheral retinal avascularization
................... HP:0007763 Retinal telangiectasia
................... HP:0007797 Retinal vascular malformation
................... HP:0007815 Abnormal distribution of retinal arterioles and venules
................... HP:0007843 Attenuation of retinal blood vessels
................... HP:0007850 Retinal vascular proliferation
................... HP:0007986 Increased retinal vascularity
................... HP:0012636 Retinal vein occlusion
................... HP:0012841 Retinal vascular tortuosity
................... HP:0025188 Retinal vasculitis
................... HP:0030666 Retinal neovascularization
........expandAbnormal vasculature of the conjunctiva morphology (HP:0008054) help
................... HP:0000503 Tortuosity of conjunctival vessels
................... HP:0000524 Conjunctival telangiectasia
................... HP:0007721 Saccular conjunctival dilatations
........expandRed eye (HP:0025337) help
................... HP:0000509 Conjunctivitis
................... HP:0025339 Superficial episcleral hyperemia
................... HP:0025340 Deep episcleral hyperemia
................... HP:0030953 Conjunctival hyperemia

 Sister Nodes: 
..expandAbnormal anterior eye segment morphology (HP:0004328) help
..expandAbnormal posterior eye segment morphology (HP:0004329) help
..expandAbnormal sclera morphology (HP:0000591) help
..expandAbnormal uvea morphology (HP:0000553) help
..expandAbnormality of globe location (HP:0100886) help
..expandAbnormality of globe size (HP:0100887) help
..expandAplasia/Hypoplasia affecting the eye (HP:0008056) help
..expandPhthisis bulbi (HP:0000667) help
..expandSpontaneous rupture of the globe (HP:0010727) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008047HP:0008047Abnormality of the vasculature of the eye0 CL E G H
HP:0008047HP:0008047Abnormality of the vasculature of the eye1 CL E G H
HP:0008047HP:0008047Abnormality of the vasculature of the eye2 CL E G H
HP:0008047HP:0008047Abnormality of the vasculature of the eye3 CL E G H
HP:0008047HP:0008047Abnormality of the vasculature of the eye4 CL E G H


Genes (282) :ABCA4 ACVRL1 AGBL5 AHI1 AHR AIPL1 AIRE ANO10 APOC2 ARHGEF18 ARL2BP ARL3 ARL6 ARVCF ASAH1 ATF6 ATM ATP6 B2M BAZ1B BBS2 BEST1 BLNK BTD BTK BTNL2 C4A C8ORF37 CA4 CAPN5 CCM2 CCR1 CD19 CD79A CD79B CDHR1 CENPF CERKL CLCNKB CLIP2 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COL4A1 COL7A1 COMT COX1 COX3 CR2 CRB1 CRX CTC1 CTSA CYTB DDB2 DGCR2 DGCR6 DGCR8 DHDDS DHX38 DKC1 DNASE1L3 DUX4 ELN ENG ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERF ESS2 ETHE1 EYS FAM161A FAS FERMT1 FGFR2 FH FOXC1 FOXC2 FOXE3 FRG1 FSCN2 FUCA1 FZD4 G6PC GATA1 GCDH GDF2 GGCX GJB2 GJB6 GLA GLB1 GM2A GNAQ GNAS GNAT2 GP1BB GPIHBP1 GTF2I GTF2IRD1 GUCA1B HEXA HEXB HGSNAT HIRA HLA-A HLA-B HLA-DRB1 HLCS HSD11B2 ICOS IDH3B IFT140 IFT172 IFT88 IGFBP7 IGHM IGLL1 IGSF3 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG2 JMJD1C KIAA1549 KIF1B KIZ KLHL7 KLRC4 KRIT1 LBR LIMK1 LMF1 LMNA LPL LRAT LRBA LRP5 LRRC8A MAK MANBA MASP1 MAX MBTPS2 MDH2 MEFV MERTK MLXIPL MPLKIP MYD88 MYOC ND1 ND2 ND4 ND4L ND5 ND6 NDP NDUFS2 NEK1 NEK2 NEU1 NF2 NLRC4 NLRP1 NLRP3 NMNAT1 NOD2 NOTCH3 NR2E3 NRL OFD1 PCARE PCNA PDCD10 PDE6A PDE6B PDE6C PDE6G PDE6H PEX6 PIK3R1 PITX3 PLG PMPCA POLH POMGNT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSMB4 PSMB8 PSMB9 RAG1 RAG2 RBP3 RDH12 REEP6 RET RFC2 RGR RHO RLBP1 RNF125 RNF168 ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RREB1 SAG SAMD9 SCAPER SCN9A SDHA SDHAF2 SDHB SDHC SDHD SEC24C SEMA4A SETX SLC37A4 SLC39A4 SLC52A2 SLC7A14 SMAD4 SMCHD1 SMPD1 SNRNP200 SPATA7 STAT4 STN1 STX16 TBL2 TBX1 TCF3 TFRC TLR4 TMEM127 TMEM231 TNFRSF13B TNFRSF13C TNFRSF1A TNXB TOPORS TP63 TREX1 TTC8 TUB TULP1 UBAC2 UFD1 UROS USB1 USH2A VHL WAS WIPF1 XPA XPC ZMPSTE24 ZNF408 ZNF513

Diseases (180) :791 607364 269 602473 601631 25 3205 33226 137750 649 190 637 90340 1170 247691 892 601718 774 600376 604393 284289 207750 49382 208900 104 613194 193220 33110 253260 47 300755 307200 614500 240500 613493 612692 243605 608380 614180 73229 226600 612199 256540 910 278740 192430 305000 36412 187300 278730 278800 207 51188 602772 2908 123500 29072 33001 153400 158900 607921 230000 133780 232200 436274 129500 324 79444 79443 94089 444490 615947 179 36426 218030 607594 612572 616394 601495 149700 464 308300 171300 116860 238600 614700 601813 248510 257920 2273 308800 305390 47045 575 191900 120100 148200 608553 613428 615919 613810 613582 95433 217090 278750 610599 608133 617591 256040 601457 613769 420741 613794 613826 610455 606002 232220 37 610359 617341 616740 32960 142680 609923 103285 106260 613464 263700 604173 613809 906 278700 278720 613617 240300 567 333 228000 644 904 79241 193235 221061 611773 607595 180000 351 194050 90050 79277 230500 309246 272800 268800 79242 614224 812 256550 136 97231 601414 257200 2752 69085 600132 535000 314652 797 117 601675 88632 148210 779 740 234050 2751 617388 616260 133020 285
 

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