Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal anterior chamber morphology (HP:0000593)help
..Starting node
..expand
Ocular anterior segment dysgenesis (HP:0007700)help
Term ID: 7700
Name: Ocular anterior segment dysgenesis
Synonym: Anterior chamber cleavage defect; Anterior chamber cleavage disorder; Anterior chamber malformation; Anterior chamber mesodermal anomalies; Anterior segment developmental abnormality; Anterior segment dysgenesis; Anterior segment mesencyhmal dysgenesis; Anterior segment ocular dysgenesis
Definition: Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
Comments:
Reference: HP:0007700
Genes and Diseases:
 
       Child Nodes:
........expandRieger anomaly (HP:0000558) help
........expandPeters anomaly (HP:0000659) help
........expandAxenfeld anomaly (HP:0001492) help

 Sister Nodes: 
..expandAbnormal trabecular meshwork morphology (HP:0012630) help
..expandAbsent anterior chamber of the eye (HP:0008037) help
..expandAnterior chamber cells (HP:0025560) help
..expandAnterior chamber cyst (HP:0025311) help
..expandAnterior chamber flare (HP:0031616) help
..expandAnterior chamber inflammatory cells (HP:0031701) help
..expandAnterior chamber red blood cells (HP:0031702) help
..expandAnterior chamber synechiae (HP:0007833) help
..expandCorneolenticular adhesion (HP:0011485) help
..expandDeep anterior chamber (HP:0007765) help
..expandHypopyon (HP:0031615) help
..expandShallow anterior chamber (HP:0000594) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007700HP:0007700Ocular anterior segment dysgenesis0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0007700HP:0007700Ocular anterior segment dysgenesis0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0007700HP:0007700Ocular anterior segment dysgenesis1HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0007700HP:0007700Ocular anterior segment dysgenesis1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0007700HP:0007700Ocular anterior segment dysgenesis2HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0007700HP:0007700Ocular anterior segment dysgenesis2VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0007700HP:0007700Ocular anterior segment dysgenesis3HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0007700HP:0007700Ocular anterior segment dysgenesis3VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0007700HP:0007700Ocular anterior segment dysgenesis4HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0007700HP:0007700Ocular anterior segment dysgenesis4VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007700HP:0007700Ocular anterior segment dysgenesis0PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM015299006602669
HP:0007700HP:0007700Ocular anterior segment dysgenesis1PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM015299006602669
HP:0007700HP:0007700Ocular anterior segment dysgenesis2PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM015299006602669
HP:0007700HP:0007700Ocular anterior segment dysgenesis3PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM015299006602669
HP:0007700HP:0007700Ocular anterior segment dysgenesis4PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM015299006602669


Genes (235) :ADAMTS10 ADAMTSL1 ADAR AGK AKT1 ALDH18A1 ATOH7 B3GAT3 B3GLCT B9D1 B9D2 BAZ1B BCOR BDNF BFSP2 BRCA1 BRCA2 BRIP1 BTRC CANT1 CAV1 CC2D2A CENPF CEP290 CEP55 CHN1 CHST3 CLIP2 COL11A1 COL18A1 COL1A1 COL25A1 COL4A1 COL4A5 COL5A1 COL5A2 COX1 COX2 COX3 CPAMD8 CPLX1 CRPPA CRYAA CRYAB CRYBA1 CRYBA2 CRYBB1 CRYBB2 CRYBB3 CRYGB CRYGC CRYGD CSPP1 CTBP1 CTDP1 CYP1B1 CYTB DAG1 DIS3L2 DLX5 DLX6 DOCK6 ELN ENTPD1 EPG5 EPHA2 EPS15L1 ERCC2 ERCC4 ERCC6 ETFA ETFB ETFDH FAM111A FAM126A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FGF3 FGFR1 FGFR2 FGFRL1 FH FKRP FKTN FLNA FOXC1 FOXE3 FUT8 GCNT2 GFER GJA8 GLIS3 GNAQ GPC3 GTF2I GTF2IRD1 H19 HHAT HMX1 IARS2 IFIH1 IGF1R ITPR1 JAG1 KCTD1 KIF1B LAMB2 LARGE1 LEMD2 LETM1 LIMK1 LMNA LMX1B LONP1 LRP2 LSS LTBP2 MAD2L2 MAF MAFA MAFB MAP2K2 MAX MDH2 MIP MIR184 MIR204 MITF MKS1 MSMO1 ND1 ND5 ND6 NDP NHS NSD2 OCRL PALB2 PAX3 PAX6 PEX11B PEX5 PEX7 PHGDH PIEZO2 PIGY PIK3R1 PITX2 PITX3 POMGNT1 POMT1 POMT2 PORCN POU6F2 PRDM5 PTEN PXDN PYCR1 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RBP4 REST RET RFC2 RFWD3 RNASEH2A RNASEH2B RNASEH2C RPGRIP1 RPGRIP1L SAMHD1 SDHA SDHAF2 SDHB SDHC SDHD SEM1 SH3PXD2B SIL1 SIPA1L3 SLC2A10 SLC33A1 SLC38A8 SLX4 SOX10 SRY STIM1 TBC1D20 TBL2 TCTN2 TEK TMEM107 TMEM127 TMEM216 TMEM231 TMEM67 TP63 TREX1 TRIM28 TRIM44 TRIP13 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TWIST1 UBE2T VHL VSX1 WDPCP WDR73 WFS1 WHCR WNT10B WT1 XRCC2 XYLT2 ZNF469

Diseases (163) :612109 107250 614195 51 212350 614691 447757 447753 616603 245600 709 261540 300166 611597 251450 606721 243605 154780 267750 287 607595 301050 540000 614643 604219 613763 600881 115900 611544 601547 609741 615188 604307 115700 604168 708 617315 614219 615683 242840 116600 610756 231680 93325 127000 85163 610532 236670 90652 250923 601631 610256 116700 330054 613076 116200 436174 118450 181270 171300 609049 212500 79474 600373 616509 601088 147630 615280 615274 614303 616722 616834 302350 309000 120200 604229 614920 616716 215100 79351 601815 108145 616809 613155 613150 90354 614170 614438 614222 600118 614225 616428 248800 616851 3342 614482 609218 1772 615663 116400 229200 521445 744 221900 564 904 893 84 231300 600975 616538 101400 782 88632 618005 610199 185300 613086 190 649 534 137902 253280 269400 249420 85194 277600 654 2440 233 617319 133540 602361 154700 608328 2791 613001 29072 602482 83461 1422 1065 206700 161200 222448 251750 614819 310600 106210 194072 3163 180500 2092 305600 611584 612783 251300 194190 270450 193510 193500 269880 137600
 

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