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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
adrenoleukodystrophy +   
Aicardi syndrome 
Alacrima +   
Aland Island eye disease  
Albinism +   
Allan-Herndon-Dudley syndrome  
aniridia +   
Arnold Stickler Bourne Syndrome 
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
Barth syndrome +   
basal laminar drusen  
bestrophinopathy  
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Bothnia retinal dystrophy  
Bowman's membrane folds or rupture 
bradyopsia  
Brittle Cornea Syndrome +   
Brunner syndrome  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract Microcornea Syndrome  
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
CK syndrome  
Colobomatous Macrophthalmia with Microcornea 
combined oxidative phosphorylation deficiency 6  
cone-rod dystrophy +   
Congenital Alacrima +   
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Mydriasis +   
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
cornea cancer +  
cornea plana +   
Cornea Plana 1 
Cornea Plana 2  
corneal argyrosis 
corneal degeneration +   
corneal deposit +  
corneal dystrophy +   
corneal ectasia 
corneal edema +   
Corneal Endothelial Cell Loss 
Corneal Graft Rejection  
Corneal Hypesthesia, Familial 
Corneal Injuries +   
corneal intraepithelial neoplasm 
corneal neovascularization +   
Corneal Opacity +   
corneal staphyloma 
Corneal Wavefront Aberration 
Dent disease +   
Dermoids of Cornea 
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Duane retraction syndrome +   
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
enhanced S-cone syndrome  
exudative vitreoretinopathy +   
factor VIII deficiency +   
familial benign fleck retina  
Fanconi anemia complementation group B  
FG syndrome +   
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
Glaucoma 1, Open Angle, P  
glycogen storage disease IXa  
glycogen storage disease IXd  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hemophilia B  
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
high hyperopia  
Histiocytic Dermatoarthritis 
HRPT-related hyperuricemia  
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
Iris Pigment Epithelium Anomalies 
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Joubert syndrome 8  
Keipert syndrome  
Kennedy's disease  
keratitis +   
keratoconus +   
keratopathy +  
Leber congenital amaurosis +   
Lesch-Nyhan syndrome +   
MASA syndrome  
megalocornea +   
A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO)
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
Microcephaly and Chorioretinopathy +   
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microspherophakia +   
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
nephrogenic syndrome of inappropriate antidiuresis  
Neuhauser Syndrome 
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82  
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92  
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Opitz GBBB syndrome type I  
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
partial androgen insensitivity syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
Prieto syndrome 
primary congenital glaucoma +   
primary ovarian insufficiency 2B  
pseudopapilledema 
pseudopterygium 
pterygium +   
Radial Drusen, Autosomal Dominant 
Ramos Arroyo Clark Syndrome 
renal hypomagnesemia 5 with ocular involvement  
Renpenning syndrome  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe  
retinitis pigmentosa +   
retinitis pigmentosa 23  
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
ring dermoid of cornea  
Ritscher-Schinzel syndrome 2  
sclerocornea +   
severe congenital encephalopathy due to MECP2 mutation  
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
Spondyloocular Syndrome, Autosomal Recessive  
Stern Lubinsky Durrie Syndrome 
Stickler Syndrome, Type I, Nonsyndromic Ocular  
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
syndromic X-linked mental retardation 35  
trachoma +   
Van Esch-O'Driscoll syndrome  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Waisman syndrome  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-linked atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-Linked Macular Dystrophy +   
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia  
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  

Synonyms
Exact Synonyms: MGC1 ;   MGCN ;   anterior megalophthalmos ;   congenital anterior megalophthalmia
Primary IDs: MESH:C562829
Alternate IDs: OMIM:249300 ;   OMIM:309300 ;   RDO:0012378
Xrefs: ORDO:91489
Definition Sources: http://en.wikipedia.org/wiki/Megalocornea "DO", http://ghr.nlm.nih.gov/gene/CHRDL1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6849653 "DO"

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