Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormality of the curvature of the cornea (HP:0100691)help
..Starting node
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Flat cornea (HP:0007720)help
Term ID: 7720
Name: Flat cornea
Synonym: Cornea plana
Definition: Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
Comments:
Reference: HP:0007720
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAstigmatism (HP:0000483) help
..expandIncreased corneal curvature (HP:0100692) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007720HP:0007720Flat cornea0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0007720HP:0007720Flat cornea0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0007720HP:0007720Flat cornea0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0007720HP:0007720Flat cornea0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0007720HP:0007720Flat cornea0KERA CL E G H110816309OMIM:217300Cornea plana 2.8
HP:0007720HP:0007720Flat cornea0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0MARK3 CL E G H41406897OMIM:618283Visual impairment and progressive phthisis bulbi.
HP:0007720HP:0007720Flat cornea0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0007720HP:0007720Flat cornea0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0007720HP:0007720Flat cornea0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0007720HP:0007720Flat cornea0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2HP:0040283 - Occasional58
HP:0007720HP:0007720Flat cornea0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0007720HP:0007720Flat cornea0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0007720HP:0007720Flat cornea0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional


Genes (24) :BAZ1B BCL7B BUD23 CLIP2 DNAJC30 EIF4H ELN FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KERA LIMK1 MARK3 METTL27 MLXIPL NCF1 PRDM5 RFC2 STX1A TBL2 TGFB2 TMEM270 VPS37D

Diseases (5) :ORPHA:904 OMIM:217300 OMIM:618283 OMIM:614170 OMIM:614816
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.