Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal cornea morphology (HP:0000481)help
..Starting node
..expand
Abnormality of the curvature of the cornea (HP:0100691)help
Term ID: 100691
Name: Abnormality of the curvature of the cornea
Synonym:
Definition:
Comments:
Reference: HP:0100691
Genes and Diseases:
 
       Child Nodes:
........expandAstigmatism (HP:0000483) help
................... HP:0000484 Hyperopic astigmatism
................... HP:0025612 Corneal astigmatism
................... HP:0031787 Oblique astigmatism
................... HP:0031788 With the rule astigmatism
................... HP:0031789 Against the rule astigmatism
................... HP:0031790 Mixed astigmatism
................... HP:0031791 Lenticular astigmatism
................... HP:0031792 Irregular astigmatism
................... HP:0500041 Myopic astigmatism
........expandFlat cornea (HP:0007720) help
........expandIncreased corneal curvature (HP:0100692) help
................... HP:0000563 Keratoconus
................... HP:0001119 Keratoglobus

 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 size (HP:0001120) 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 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:0100691HP:0100691Abnormality of the curvature of the cornea0 CL E G H
HP:0100691HP:0100691Abnormality of the curvature of the cornea1 CL E G H
HP:0100691HP:0100691Abnormality of the curvature of the cornea2 CL E G H


Genes (202) :ABCA4 AGBL5 AHI1 AHR AIPL1 ANKRD11 ANTXR1 AP3D1 ARCN1 ARHGEF18 ARHGEF2 ARID1B ARL2BP ARL3 ARL6 ARSG BAZ1B BBS1 BBS2 BEST1 BLOC1S3 BRCA1 BRCA2 BRIP1 C1QBP C8ORF37 CA4 CACNA1F CC2D2A CDHR1 CEP290 CEP78 CERKL CHD3 CHD4 CHMP1A CHRDL1 CLDN16 CLDN19 CLIP2 CLRN1 CNGA1 CNGB1 COL11A1 COL1A1 COL3A1 COL4A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 CRB1 CRX DHDDS DHX38 DNAJC21 DPYD EBF3 ELN EMC1 ERCC4 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FOXE3 FSCN2 GDF6 GLRB GNPTAB GPR143 GTF2I GTF2IRD1 GUCA1B GUCY2D HARS HGSNAT HIST1H1E HRAS IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG2 IQCB1 KCNJ13 KCNV2 KDM5B KERA KIAA1549 KIDINS220 KIF11 KIZ KLHL7 KMT2B LCA5 LIMK1 LMX1B LRAT MAD2L2 MAG MAK MARK3 MBD5 MBTPS2 MERTK MIR184 NEK2 NFIX NIPBL NMNAT1 NR2E3 NRL OFD1 PACS2 PALB2 PCARE PCYT1A PDE6A PDE6B PDE6G PIEZO2 PITX2 PITX3 PLOD1 POGZ POMGNT1 PRCD PRDM5 PRMT7 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RAD51 RAD51C RBP3 RD3 RDH12 REEP6 RFC2 RFWD3 RGR RHO RLBP1 RNU4ATAC ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SETD5 SLC25A24 SLC2A10 SLC39A8 SLC7A14 SLX4 SMARCAL1 SNRNP200 SPATA7 TBC1D7 TBCE TBL2 TCF4 TEAD1 TNXB TOPORS TRIM37 TRNS2 TTC8 TUB TULP1 TYR UBE2T UBE3B USH2A USP9X VARS VSX1 WAC XRCC2 ZNF408 ZNF469 ZNF513

Diseases (98) :261250 284804 617164 617523 135900 231183 904 209900 614077 84 617713 178333 300476 300600 612285 618205 617159 614961 309300 248250 248190 250984 607595 614134 617052 293948 617330 616875 278760 609053 614619 54 617537 610356 618109 217300 617296 617284 459056 616680 618283 156200 2273 614303 614753 122470 618067 85167 108145 616364 614170 617157 1824 615761 2095 616721 242900 248000 2323 2896 610954 108985 253250 616188 203100 244450 300968 617802 148300 616708 791 617023 65 604393 2067 230740 287 130050 286 613835 613829 88632 252600 300814 204000 3071 152950 161200 180550 1900 225400 90354 204100 613826 3342 208050 285 229200
 

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