Megalocornea

Symptom Information:

Symptom ID: HPO:0000485
Synonyms:
Increased corneal diameter [HPO:0000485]
Megalocornea (disorder) [Orphanet:4400]
Keratoglobus [HPO:0000485]
Congenital keratoglobus [Orphanet:4400]
Increased corneal diameter [OMIM:Increased corneal diameter]
Megalocornea [OMIM:Megalocornea]
Megalocornea [Orphanet:4400]
Macrocornea [Orphanet:4400]
Macrocornea [MedDRA:10059253]
Megalocornea (WWS) [OMIM:Megalocornea (WWS)]
Megalocornea (corneal diameter of 13mm and greater in affected males) [OMIM:Megalocornea (corneal diameter of 13mm and greater in affected males)]
Megalocornea (diameter greater than 12 mm) [OMIM:Megalocornea (diameter greater than 12 mm)]
Megalocornea (in some patients) [OMIM:Megalocornea (in some patients)]
Corneal diameter increased [MedDRA:10059297]
Quality:
Cross references:
Orphanet:4400 "Megalocornea" [Orphanet:4400]
OMIM: "Increased corneal diameter" [OMIM:Increased corneal diameter]
OMIM: "Megalocornea" [OMIM:Megalocornea]
OMIM: "Megalocornea (WWS)" [OMIM:Megalocornea (WWS)]
OMIM: "Megalocornea (corneal diameter of 13mm and greater in affected males)" [OMIM:Megalocornea (corneal diameter of 13mm and greater in affected males)]
OMIM: "Megalocornea (diameter greater than 12 mm)" [OMIM:Megalocornea (diameter greater than 12 mm)]
OMIM: "Megalocornea (in some patients)" [OMIM:Megalocornea (in some patients)]
UMLS:C0344530 "Keratoglobus" [HPO:0000485]
UMLS:C0344530 "Congenital keratoglobus" [Orphanet:4400]
Is a (Direct Parents):
MedDRA Corneal and scleral disorders congenital
HPO         Abnormality of corneal size
Orphanet Abnormality of the eye
MedDRA Ophthalmic function diagnostic procedures
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the cornea(HPO:0000481)
                      Abnormality of corneal size(HPO:0001120)
                         Megalocornea(HPO:0000485)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Corneal and scleral disorders congenital(MedDRA:10010987)
          Megalocornea(HPO:0000485)
Investigations(MedDRA:10022891)
    Neurological, special senses and psychiatric investigations(MedDRA:10029295)
       Ophthalmic function diagnostic procedures(MedDRA:10030864)
          Megalocornea(HPO:0000485)
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Aarskog-Scott syndrome (Orphanet:915)
Adrenomyodystrophy (Orphanet:977)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Axenfeld-Rieger syndrome (Orphanet:782)
BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Dubowitz syndrome (Orphanet:235)
Fibrochondrogenesis (Orphanet:2021)
Fine-Lubinsky syndrome (Orphanet:1272)
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (Orphanet:238763)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Isolated congenital megalocornea (Orphanet:91489)
Lowry-MacLean syndrome (Orphanet:2409)
MEGALOCORNEA (OMIM:309300)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mucolipidosis type 2 (Orphanet:576)
Muscle-eye-brain disease (Orphanet:588)
N syndrome (Orphanet:2608)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
PUPILLARY MEMBRANE, PERSISTENCE OF (OMIM:178900)
Retinopathy - anemia- central nervous system anomalies (Orphanet:3088)
SHORT syndrome (Orphanet:3163)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)