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 thickness (HP:0011486)help
Term ID: 11486
Name: Abnormality of corneal thickness
Synonym:
Definition: An abnormal anteroposterior thickness of the cornea.
Comments:
Reference: HP:0011486
Genes and Diseases:
 
       Child Nodes:
........expandIncreased corneal thickness (HP:0011487) help
........expandDecreased corneal thickness (HP:0100689) 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 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:0011486HP:0011486Abnormality of corneal thickness0 CL E G H
HP:0011486HP:0011486Abnormality of corneal thickness1 CL E G H
HP:0011486HP:0011486Abnormality of corneal thickness2 CL E G H


Genes (111) :ABCA4 AGBL5 AHI1 AHR AIPL1 ANTXR1 ARHGEF18 ARL2BP ARL3 ARL6 BBS2 BEST1 C8ORF37 CA4 CDHR1 CEP290 CERKL CHRDL1 CLRN1 CNGA1 CNGB1 COL1A1 COL3A1 COL5A1 COL5A2 CRB1 CRX DCN DHDDS DHX38 EYS FAM161A FOXE3 FSCN2 GDF6 GUCA1B GUCY2D HGSNAT HRAS IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG2 IQCB1 KCNJ13 KERA KIAA1549 KIZ KLHL7 LCA5 LMX1B LRAT MAK MERTK MIR184 NEK2 NMNAT1 NR2E3 NRL OFD1 PCARE PCYT1A PDE6A PDE6B PDE6G PIEZO2 PITX3 PLOD1 POMGNT1 PRCD PRDM5 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 SAG SCAPER SEMA4A SLC2A10 SLC7A14 SNRNP200 SPATA7 TNXB TOPORS TTC8 TUB TULP1 USH2A VSX1 ZNF408 ZNF469 ZNF513

Diseases (30) :309300 610048 217300 229200 791 65 604393 2067 230740 287 130050 286 613835 613829 88632 204000 3071 161200 614303 108145 1900 225400 90354 614170 204100 613826 3342 208050 285 148300
 

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