MetaADEDB 2.0 @ LMMD
Eye Abnormalities
(UMLS:C0015393)
Definition:
Congenital absence of or defects in structures of the eye; may also be hereditary.
UMLS ID:
C0015393
MeSH ID:
D005124
Classification 1:
Name:
Eye Diseases
MeSH Tree Number(s):
C11.250
Classification 2:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.131.384
Synonym(s)
1.
Eye Abnormalities
2.
Congenital Eye Disorder
3.
Congenital Ophthalmologic Abnormality
4.
Congenital abnormality of eye
5.
Congenital anomaly of eye
6.
Congenital anomaly of eye, NOS
7.
Congenital anomaly of the globe
8.
Congenital anomaly;eye
9.
Congenital deformity of eye
10.
Congenital deformity of eye, NOS
11.
Congenital disease or syndrome of eye
12.
Congenital eye anomalies
13.
Congenital eye disease
14.
Congenital eye disorder
15.
Congenital eye syndrome
16.
Congenital malformation of eye
17.
Congenital malformation of eye, unspecified
18.
Congenital ocular syndrome
19.
Congenital syndrome of the eye
20.
EYE ABNORMALITY
21.
EYE ANOMALY
Associated Drug(s)
Similar ADE(s)
NameSemantic Similarity
1Abnormalities, Drug-Induced30%
2Situs Inversus30%
3Beckwith-Wiedemann Syndrome29.6%
4Wolf-Hirschhorn Syndrome29.6%
5Aicardi's syndrome27.5%
6Holoprosencephaly27.3%
7CHARGE Syndrome25.7%
8Smith-Magenis syndrome24.7%
9Cri-du-Chat Syndrome24.3%
10Down Syndrome24.3%
11Trisomy 2124.3%
12Anencephaly23.1%
13Cardiovascular Abnormalities23.1%
14Retinal Degeneration22.2%
15Skin Abnormalities22.2%
16Lymphatic Abnormalities22.2%
17Congenital Microtia22.2%
18Prune Belly Syndrome22%
19Twins, Conjoined22%
20Waardenburg Syndrome22%
21Congenital diaphragmatic hernia21.6%
22Rubinstein-Taybi Syndrome21.5%
23Asthenopia21.1%
24Conjunctival Diseases21.1%
25Corneal Diseases21.1%
26Eyelid Diseases21.1%
27Lacrimal Apparatus Diseases21.1%
28Lens Diseases21.1%
29Ocular Hypertension21.1%
30Ocular Hypotension21.1%
31Retinal Diseases21.1%
32Scleral Diseases21.1%
33Vitreous Detachment21.1%
34Posterior Vitreous Detachment21.1%
35Ectodermal Dysplasia20.8%
36Aplasia Cutis Congenita20.8%
37Prader-Willi Syndrome20.6%
38Xerophthalmia20%
39Low Tension Glaucoma20%
40Iridocorneal endothelial syndrome20%
41Keratoconjunctivitis Sicca19.4%
42Maxillofacial Abnormalities19.3%
43Dural Arteriovenous Fistula19.3%
44Retinitis Pigmentosa19.1%
45Pigmentary retinopathy19.1%
46Dextrocardia19.1%
47Chorioretinitis18.8%
48Urogenital Abnormalities18.2%
49Pars Planitis18%
50Duane Retraction Syndrome17.9%
51Keratoconjunctivitis17.9%
52Kartagener Syndrome17.8%
53Uveal Neoplasms17.4%
54Eyelid Neoplasms17.3%
55Retinal Hemorrhage17.3%
56Alstrom Syndrome17%
57Anus, Imperforate16.4%
58Hydranencephaly16.4%
59Neural Tube Defects16.4%
60Retinopathy of Prematurity16.4%
61Tethered Cord Syndrome16.4%
62Iniencephaly16.4%
63Craniorachischisis16.4%
64Limb Deformities, Congenital16.4%
65Exencephaly16.4%
66Septo-Optic Dysplasia16.4%
67Craniofacial Abnormalities16.4%
68Cortical Dysplasia16.4%
69Malformations of Cortical Development16.4%
70Anorectal Malformations16.4%
71Choroiditis16.3%
72Iridocyclitis16.3%
73Iritis16.3%
74Microcephaly16.2%
75Macrocephaly16.2%
76Bloom Syndrome16.1%
77Marfan Syndrome15.8%
78Genetic Diseases, Inborn15.8%
79Corneal Ulcer15.7%
80Choroid Hemorrhage15.6%
81Nail-Patella Syndrome15.5%
82Eye Infection15.4%
83Eye Manifestations15.4%
84Eye Neoplasms15.4%
85Optic Neuropathy15.4%
86Retinal Dysplasia15.3%
87Xeroderma15.3%
88Mobius Syndrome15.3%
89Porencephaly15.3%
90Angioid Streaks15%
91Anisometropia15%
92Aphakia15%
93Astigmatism15%
94Blepharitis15%
95Blepharoptosis15%
96Blepharospasm15%
97Choroid Diseases15%
98Conjunctivitis15%
99Corneal edema15%
100Corneal Opacity15%
101Dacryocystitis15%
102Dry Eye Syndromes15%
103Ectropion15%
104Enophthalmos15%
105Entropion15%
106Episcleritis15%
107Exophthalmos15%
108Glaucoma15%
109Iris Diseases15%
110Keratitis15%
111Keratoconus15%
112Lacrimal Duct Obstruction15%
113Lens dislocation15%
114Lens Subluxation15%
115Mydriasis15%
116Myopia15%
117Presbyopia15%
118Pterygium15%
119Retinal Detachment15%
120Retinitis15%
121Scleritis15%
122Uveitis15%
123Corneal Neovascularization15%
124Orbital Pseudotumor15%
125Cataract15%
126Pinguecula15%
127Trichiasis15%
128Classical Lissencephalies and Subcortical Band Heterotopias15%
129Acrocephalosyndactylia14.8%
130Craniosynostosis14.6%
131Syndactyly14.6%
132Brachycephaly14.6%
133Scimitar Syndrome14.5%
134Fragile X Syndrome14.5%
135Aniridia14.1%
136Corneal Scar14%
137Polycystic Kidney Diseases13.8%
138Williams Syndrome13.8%
139Mandibulofacial Dysostosis13.4%
140Amelia13.3%
141Arachnodactyly13.3%
142Ectopia Cordis13.3%
143Ectromelia13.3%
144Hemimelia13.3%
145Meningomyelocele13.3%
146Phocomelia13.3%
147Sirenomelia13.3%
148Spina Bifida13.3%
149Polydactyly13.3%
150Brachydactyly13.3%
151Plagiocephaly13.3%
152Lower Extremity Deformities, Congenital13.3%
153Upper Extremity Deformities, Congenital13.3%
154Single umbilical artery13.3%
155Turner Syndrome13.2%
156Laryngostenosis13%
157Mouth Abnormalities13%
158Primary Ciliary Dyskinesia13%
159Poland Syndrome12.9%
160Noonan Syndrome12.9%
161Cockayne Syndrome12.9%
162Hordeolum12.9%
163Esophageal Atresia12.9%
164Intestinal Atresia12.9%
165Horseshoe Kidney12.9%
166Pectus excavatum12.9%
167Klippel-Feil Syndrome12.8%
168Gastroschisis12.8%
169Synostosis12.8%
170Congenital nystagmus12.8%
171Color blindness12.8%
172Trachoma12.7%
173Acrodermatitis12.7%
174Lymphangiectasis, Intestinal12.7%
175Gianotti-Crosti Syndrome12.7%
176Cleft Palate12.5%
177Jaw Abnormalities12.3%
178Angle Closure Glaucoma12.2%
179Glaucoma, Open-Angle12.2%
180Macular degeneration12.2%
181Panuveitis12.2%
182Retinal Drusen12.2%
183Retinal Necrosis Syndrome, Acute12.2%
184Retinoschisis12.2%
185Exfoliation Syndrome12.2%
186Ocular Motility Disorders12.1%
187Cyclophoria12.1%
188Retinoblastoma12.1%
189Pupil Disorders11.9%
190Epidermolysis Bullosa11.9%
191Abnormalities, Radiation-Induced11.9%
192Smith-Lemli-Opitz Syndrome11.8%
193Dermal Sinus11.8%
194Spina Bifida Cystica11.8%
195Spina Bifida Occulta11.8%
196Lissencephaly11.8%
197Polymicrogyria11.8%
198Pachygyria11.8%
199Schizencephaly11.8%
200Periventricular Nodular Heterotopia11.8%
201Acanthamoeba Keratitis11.8%
202Eye Hemorrhage11.8%
203Keratitis, Herpetic11.7%
204Cytomegalovirus Retinitis11.7%
205Vision Disorders11.7%
206Metamorphopsia11.7%
207Visual Impairment11.7%
208Klinefelter Syndrome11.7%
209Ichthyosis, X-Linked11.6%
210Eye Injuries11.6%
211Bacterial conjunctivitis11.6%
212Fetal Diseases11.5%
213Corneal Perforation11.4%
214Polycystic Kidney, Autosomal Dominant11.3%
215Micrognathism11%
216Pierre Robin Syndrome11%
217Albinism11%
218Ophthalmia Neonatorum11%
219Endophthalmitis10.9%
220Optic Atrophy10.9%
221Optic Neuritis10.9%
222Papilledema10.9%
223Pemphigoid, Benign Mucous Membrane10.9%
224Retinal Artery Occlusion10.9%
225Strabismus10.9%
226Tolosa-Hunt Syndrome10.9%
227Orbital Cellulitis10.9%
228Retinal Vasculitis10.9%
229Hypertensive Retinopathy10.9%
230Retrobulbar Hemorrhage10.9%
231Corneal Endothelial Cell Loss10.9%
232Arthrogryposis10.8%
233Choanal Atresia10.8%
234Tracheobronchomegaly10.8%
235Anterior uveitis10.8%
236Uveitis, Posterior10.8%
237Laryngocele10.8%
238Optic Atrophy, Hereditary, Leber10.8%
239Hyphema10.8%
240Retinal Neovascularization10.8%
241Vitreous Hemorrhage10.8%
242Choledochal Cyst10.7%
243Hermaphroditism10.7%
244Disorders of Sex Development10.7%
245Cryptorchidism10.6%
246Hypospadias10.6%
247Central Nervous System Cysts10.5%
248Aortic coarctation10.5%
249Cor Triatriatum10.5%
250Coronary Vessel Anomalies10.5%
251Dental Enamel Hypoplasia10.5%
252Patent ductus arteriosus10.5%
253Ebstein Anomaly10.5%
254Heart Septal Defects10.5%
255Hypodontia10.5%
256Macrostomia10.5%
257Meningocele10.5%
258Microstomia10.5%
259Tetralogy of Fallot10.5%
260Transposition of Great Vessels10.5%
261Hypoplastic Left Heart Syndrome10.5%
262May-Thurner Syndrome10.5%
263Encephalocele10.5%
264Dandy-Walker Syndrome10.5%
265Craniofacial Dysostosis10.4%
266Wolff-Parkinson-White Syndrome10.3%
267POEMS Syndrome10.3%
268Abdominal Cramps10%
269Amniotic Band Syndrome10%
270Asphyxia Neonatorum10%
271Infant, Premature, Diseases10%
272Panophthalmitis10%
273Infantile Colic10%
274Hyperkeratosis, Epidermolytic9.8%
275Retrognathia9.8%
276Cystic Fibrosis9.8%
277Charcot-Marie-Tooth Disease9.7%
278Antley-Bixler Syndrome Phenotype9.7%
279Sjogren-Larsson Syndrome9.6%
280Aortopulmonary Septal Defect9.3%
281Double Outlet Right Ventricle9.3%
282Endocardial Cushion Defects9.3%
283Myocardial bridging9.3%
284Aorticopulmonary Septal Defect9.3%
285Pseudoxanthoma Elasticum9.2%
286Laryngomalacia9.2%
287Kallmann Syndrome9.1%
288Pectus carinatum9.1%
289Bladder Exstrophy9%
290Epispadias9%
291Hyperandrogenism8.9%
292Multicystic Dysplastic Kidney8.9%
293Esotropia8.8%
294Exotropia8.8%
295Choroidal Neovascularization8.8%
296Prognathism8.8%
297Blepharophimosis8.7%
298Optic Neuropathy, Ischemic8.7%
299Anterior Ischemic Optic Neuropathy8.7%
300Truncus Arteriosus, Persistent8.7%
301Goldenhar Syndrome8.7%
302Long QT Syndrome8.7%
303Platybasia8.7%
304Tricuspid Atresia8.7%
305Arrhythmogenic Right Ventricular Dysplasia8.7%
306Gonadal Dysgenesis8.6%
307Bronchomalacia8.6%
308Adrenogenital Syndrome8.6%
309Tracheomalacia8.6%
310Ovotesticular Disorders of Sex Development8.6%
311Retinal Vein Occlusion8.6%
312Anisocoria8.5%
313Diabetic Retinopathy8.5%
314Tonic Pupil8.5%
315Eye pain8.5%
316Orbital Myositis8.5%
317Diplopia8.4%
318Scotoma8.4%
319Photophobia8.4%
320Amaurosis8.4%
321Blindness8.4%
322Xeroderma Pigmentosum8.3%
323Meconium Aspiration Syndrome8.2%
324Tuberous Sclerosis8.1%
325Zellweger Syndrome7.8%
326Neoplastic Syndromes, Hereditary7.7%
327Romano-Ward Syndrome7.6%
328Refsum Disease7.6%
329Basal Cell Nevus Syndrome7.4%
330Familial Mediterranean Fever7.3%
331Talipes7.3%
332Anemia, Neonatal7.3%
333Multiple Epiphyseal Dysplasia7.3%
334Osteochondrodysplasias7.3%
335Pelger-Huet Anomaly7.3%
336Persistent Fetal Circulation Syndrome7.3%
337Werner Syndrome7.3%
338Myasthenic Syndromes, Congenital7.3%
339Umbilical hernia7.2%
340Uveomeningoencephalitic Syndrome7.1%
341Herpes Zoster Ophthalmicus7.1%
342Ophthalmoplegia7%
343External Ophthalmoplegia7%
344Congenital clubfoot7%
345Vertical Talus7%
346Amblyopia7%
347Hemianopsia6.9%
348Anemia, Sickle Cell6.9%
349Thalassemia6.9%
350Amaurosis Fugax6.9%
351Blindness, Cortical6.9%
352Muscular Dystrophy, Duchenne6.9%
353Rett Syndrome6.9%
354Mucopolysaccharidosis II6.3%
355Behcet Syndrome6.2%
356Dwarfism6%
357Graves Disease5.9%
358Neonatal Abstinence Syndrome5.9%
359Horner Syndrome5.8%
360Fetal Growth Retardation5.7%
361Arteriovenous fistula5.7%
362Muscular Dystrophy5.7%
363Osteogenesis Imperfecta5.7%
364Fetal Hypoxia5.7%
365Fetal Alcohol Spectrum Disorders5.7%
366Sickle Cell Trait5.7%
367Toxoplasmosis, Congenital5.6%
368Syphilis, Congenital5.6%
369Menkes Kinky Hair Syndrome5.5%
370Paralysis, Obstetric5.5%
371Amino Acid Metabolism, Inborn Errors5.4%
372Carbohydrate Metabolism, Inborn Errors5.4%
373Metal Metabolism, Inborn Errors5.4%
374Progeria5.4%
375Lysosomal Storage Diseases5.4%
376Cytochrome-c Oxidase Deficiency5.4%
377Peroxisomal Disorders5.4%
378Bronchopulmonary Dysplasia5.3%
379Wiskott-Aldrich Syndrome5.1%
380Neuronal Ceroid-Lipofuscinoses5.1%
381Kearns-Sayre syndrome4.8%
382Autoimmune Lymphoproliferative Syndrome4.8%
383Congenital Hyperinsulinism4.7%
384Chorioamnionitis4.7%
385Angioedemas, Hereditary4.6%
386Opsoclonus-Myoclonus Syndrome4.6%
387Myotonic Dystrophy4.5%
388Adrenoleukodystrophy4.5%
389Glycogen storage disease type II4.4%
390Alkaptonuria4.4%
391Glycogen Storage Disease4.4%
392Hypophosphatasia4.4%
393Propionic acidemia4.4%
394Dihydropyrimidine Dehydrogenase Deficiency4.4%
395Cystinosis4.4%
396Fabry Disease4.4%
397Respiratory Distress Syndrome, Newborn4.3%
398Denys-Drash Syndrome4.3%
399Mucopolysaccharidosis III4.3%
400Acute Chest Syndrome4.3%
401Cutis Laxa4.3%
402Sicca Syndrome4.3%
403Sjogren's Syndrome4.3%
404Porokeratosis4.2%
405Keratoderma, Palmoplantar4.2%
406Chronic granulomatous disease4.2%
407Galactosemias4.2%
408Urea Cycle Disorders, Inborn4.2%
409Tyrosinemias4.2%
410Welander Distal Myopathy4.2%
411Hepatolenticular Degeneration4.1%
412Amyloid Neuropathies, Familial4.1%
413Miller Fisher Syndrome4%
414Hydrops Fetalis4%
415Glycogen Storage Disease Type I3.9%
416Glycogen Storage Disease Type V3.9%
417Ophthalmoplegic Migraine3.8%
418Gaucher Disease3.8%
419Progressive supranuclear palsy3.8%
420Hyperphosphaturia3.7%
421Tay-Sachs Disease3.6%
422Homocystinuria3.6%
423Porphyrias, Hepatic3.5%
424Leigh Disease3.5%
425Canavan Disease3.5%
426Alexander Disease3.5%
427Hyaline Membrane Disease3.5%
428Peutz-Jeghers Syndrome3.5%
429Myotonia Congenita3.5%
430Thrombasthenia3.5%
431Antithrombin III Deficiency3.5%
432Protein C Deficiency3.5%
433Brain Diseases, Metabolic, Inborn3.5%
434Afibrinogenemia3.4%
435Dystonia Musculorum Deformans3.4%
436Factor VII Deficiency3.4%
437Factor X Deficiency3.4%
438Factor XII Deficiency3.4%
439Hemophilia A3.4%
440Hypolipoproteinemias3.4%
441Leukomalacia, Periventricular3.4%
442Papillon-Lefevre Disease3.4%
443Activated Protein C Resistance3.4%
444Factor II deficiency3.4%
445Factor VIII Deficiency3.4%
446Factor V deficiency3.4%
447Factor XI Deficiency3.4%
448Hypoprothrombinemias3.4%
449Hyperlipidemia, Familial Combined3.4%
450Hyperlipoproteinemia Type III3.4%
451Fanconi Anemia3.4%
452Nesidioblastosis3.4%
453Lafora Disease3.4%
454Unverricht-Lundborg Syndrome3.4%
455Anemia, Diamond-Blackfan3.4%
456Neuromyelitis Optica3.4%
457Niemann-Pick Disease, Type C3.3%
458Carbamoyl-Phosphate Synthase I Deficiency Disease3.3%
459Ataxia Telangiectasia3.1%
460Hypoalphalipoproteinemias3.1%
461Multiple Endocrine Neoplasia3.1%
462Congenital Hypothyroidism3%
463Dermatitis, Atopic3%
464Familial Periodic Paralysis2.9%
465Lactose Intolerance2.9%
466Variegate Porphyria2.9%
467Acute intermittent porphyria2.9%
468Porphyria Cutanea Tarda2.9%
469Hyperhomocysteinemia2.8%
470Renal Aminoacidurias2.8%
471Fanconi Syndrome2.8%
472Pseudohypoaldosteronism2.8%
473Liddle Syndrome2.8%
474Hyperlipoproteinemia Type IV2.8%
475Hyperlipoproteinemia Type V2.8%
476Optic Nerve Glioma2.7%
477Kernicterus2.6%
478Hypokalemic periodic paralysis2.6%
479Cystinuria2.5%
480Gout2.5%
481Multiple Endocrine Neoplasia Type 12.5%
482Pseudohypoparathyroidism2.5%
483Friedreich Ataxia2.4%
484Renal tubular acidosis2.4%
485Huntington Disease2.3%
486Arthritis, Gouty2.2%
487Familial Hypophosphatemic Rickets2.1%
488Nephroblastoma2%
489Glycosuria, Renal1.9%
490Adenomatous Polyposis Coli1.8%
491MELAS Syndrome1.5%
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