Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal cornea morphology (HP:0000481)help
Parent Node:
expand
Abnormality of corneal size (HP:0001120)help
..Starting node
..expand
Megalocornea (HP:0000485)help
Term ID: 485
Name: Megalocornea
Synonym: Anterior megalophthalmos; Enlarged cornea; Increased corneal diameter; Macrocornea
Definition: An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.
Comments:
Reference: HP:0000485
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCorneal asymmetry (HP:0009915) help
..expandMicrocornea (HP:0000482) 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:0000485HP:0000485Megalocornea0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000485HP:0000485Megalocornea0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0000485HP:0000485Megalocornea0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000485HP:0000485Megalocornea0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000485HP:0000485Megalocornea0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000485HP:0000485Megalocornea0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0000485HP:0000485Megalocornea0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000485HP:0000485Megalocornea0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0000485HP:0000485Megalocornea0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0000485HP:0000485Megalocornea0FGFR2 CL E G H22633689ORPHA:313855FGFR2-related bent bone dysplasiaHP:0040281 - Very frequent175
HP:0000485HP:0000485Megalocornea0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0000485HP:0000485Megalocornea0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000485HP:0000485Megalocornea0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000485HP:0000485Megalocornea0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0000485HP:0000485Megalocornea0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000485HP:0000485Megalocornea0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000485HP:0000485Megalocornea0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000485HP:0000485Megalocornea0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000485HP:0000485Megalocornea0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0000485HP:0000485Megalocornea0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0000485HP:0000485Megalocornea0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000485HP:0000485Megalocornea0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000485HP:0000485Megalocornea0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma.123
HP:0000485HP:0000485Megalocornea0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040283 - Occasional21
HP:0000485HP:0000485Megalocornea0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000485HP:0000485Megalocornea0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000485HP:0000485Megalocornea0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000485HP:0000485Megalocornea0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000485HP:0000485Megalocornea0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0000485HP:0000485Megalocornea0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0000485HP:0000485Megalocornea0PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000485HP:0000485Megalocornea0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 1.51
HP:0000485HP:0000485Megalocornea0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0000485HP:0000485Megalocornea0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000485HP:0000485Megalocornea0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0000485HP:0000485Megalocornea0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0000485HP:0000485Megalocornea0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000485HP:0000485Megalocornea0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0000485HP:0000485Megalocornea0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000485HP:0000485Megalocornea0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000485HP:0000485Megalocornea0PRDM5 CL E G H111079349OMIM:614170Brittle cornea syndrome 2HP:0040283 - Occasional58
HP:0000485HP:0000485Megalocornea0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0000485HP:0000485Megalocornea0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0TEK CL E G H701011724OMIM:617272Glaucoma 3, primary congenital, E.78
HP:0000485HP:0000485Megalocornea0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0000485HP:0000485Megalocornea0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000485HP:0000485Megalocornea0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional


Genes (53) :BAZ1B BCL7B BUD23 CDH11 CHRDL1 CLIP2 COL11A1 CPLX1 CTBP1 CYTB DNAJC30 EIF4H ELN FBN1 FGD1 FGFR2 FKBP6 FKRP FKTN GMPPB GNPTAB GTF2I GTF2IRD1 GTF2IRD2 KCNMA1 KIFBP LARGE1 LETM1 LIMK1 LTBP2 MAF METTL27 MLXIPL NCF1 NELFA NSD2 PIGG PIK3R1 PITX2 POMGNT1 POMK POMT1 POMT2 PPP2CA PRDM5 RFC2 SH3PXD2B STX1A TBL2 TEK TINF2 TMEM270 VPS37D

Diseases (25) :ORPHA:904 OMIM:211380 OMIM:309300 OMIM:228520 ORPHA:280 ORPHA:137675 ORPHA:284979 ORPHA:915 ORPHA:313855 ORPHA:370959 OMIM:236670 OMIM:252500 OMIM:618729 OMIM:609460 OMIM:251750 ORPHA:1272 ORPHA:3163 OMIM:269880 OMIM:180500 OMIM:253280 OMIM:618354 OMIM:614170 OMIM:249420 OMIM:617272 OMIM:268130
 

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