Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Abnormality of corneal size (HP:0001120)help
Term ID: 1120
Name: Abnormality of corneal size
Synonym:
Definition: Any abnormality of the size or morphology of the cornea.
Comments:
Reference: HP:0001120
Genes and Diseases:
 
       Child Nodes:
........expandMicrocornea (HP:0000482) help
........expandMegalocornea (HP:0000485) help
........expandCorneal asymmetry (HP:0009915) help

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal stroma (HP:0011492) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandAbnormality of the line of Schwalbe (HP:0008048) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) 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:0001120HP:0001120Abnormality of corneal size0 CL E G H
HP:0001120HP:0001120Abnormality of corneal size1 CL E G H


Genes (146) :ACTB ACTG1 ADAMTS18 ANK1 ATOH7 B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BCOR BEST1 BMP4 CC2D2A CDH11 CENPF CEP290 CEP55 CHN1 CHRDL1 CHST14 CLIP2 COL11A1 COL1A1 COL25A1 COL4A1 COL5A1 COL5A2 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTDP1 DAG1 DEAF1 EBP ELN ERCC2 ERCC6 FANCB FBN1 FGD1 FGF3 FGFR2 FKBP14 FKRP FKTN FLI1 FLII FOXE3 FOXL2 GJA1 GJA8 GNPTAB GORAB GTF2E2 GTF2I GTF2IRD1 HDAC8 HMGB3 HMX1 HSPG2 IQSEC2 JAG1 KDM6A KIF11 KIF1BP KMT2A KMT2D LARGE1 LETM1 LIMK1 LMX1B LTBP2 MAB21L2 MAF MAFB MAPRE2 MED25 MIR184 MKS1 MPLKIP NAA10 NELFA NHS NIPBL NSD2 OTX2 PIK3R1 PITX2 PITX3 PLK4 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRDM5 PRSS56 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RAP1A RAP1B RBP4 RECQL4 RFC2 RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL4 SC5D SETD5 SLC16A12 SMC1A SMC3 TBC1D20 TBL1XR1 TBL2 TBX15 TBX22 TCTN2 TEK TENM3 TFAP2A TINF2 TMEM107 TMEM216 TMEM231 TMEM67 TUBB UBE3B WDPCP WNT3

Diseases (109) :2995 615458 251066 221900 899 709 564 904 568 2712 309800 300166 193220 139471 607932 211380 243605 233 249300 309300 601776 228520 287 607595 1377 604219 611544 604307 48431 604168 819 35173 601675 133540 3412 284979 915 2791 313855 300179 236670 2308 88632 610256 110100 2710 164200 257850 116200 576 252500 2078 616943 199 300915 612109 800 255800 118450 2322 152950 609460 280 161200 251750 615877 610202 2505 616734 616449 614303 234050 627 302350 122470 610125 3163 269880 180500 107250 616171 1900 225400 253280 614170 613517 269400 2510 614222 201000 600118 614225 615147 268400 3301 959 46059 612018 615663 602342 260660 921 617272 615145 1297 268130 156610 2707 244450
 

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