Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
eye disease +     
3MC syndrome 1  
ablepharon macrostomia syndrome  
agenesis of corpus callosum, cardiac, ocular, and genital syndrome  
amblyopia +   
ancylostomiasis +  
aniridia +   
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Asthenopia  
Asymmetric Short Stature Syndrome 
Axenfeld-Rieger syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
baylisascariasis 
blepharophimosis +   
blindness +   
Blue Diaper Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brittle Cornea Syndrome +   
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Chemke Oliver Mallek Syndrome 
Choroidal Effusions +  
chromosome 6pter-p24 deletion syndrome 
CODAS syndrome  
Cogan syndrome +   
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
conjunctival disease +   
corneal disease +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
cryptophthalmia +   
cysticercosis +  
De Hauwere syndrome  
DeSanto-Shinawi syndrome  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
dipetalonemiasis 
Duane-radial ray syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
Encephalocraniocutaneous Lipomatosis  
exudative vitreoretinopathy +   
Eye Abnormalities +   
eye accommodation disease +  
eye adnexa disease +   
eye degenerative disease +   
Eye Hemorrhage +   
Eye Infections +   
Eye Injuries +   
Eye Manifestations +   
Eye Neoplasms +   
eyelid disease +   
FACES Syndrome 
foveal hypoplasia 2  
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
fundus dystrophy +   
glaucoma +   
globe disease +   
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
gonorrhea +  
Hereditary Eye Diseases +   
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hernandez Fragoso Syndrome 
hydrophthalmos +   
intellectual developmental disorder with ocular anomalies and distinctive facial features  
iridogoniodysgenesis syndrome +   
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Kapur Toriello Syndrome  
lacrimal apparatus disease +   
lens disease +   
leprosy +   
loiasis 
Marfan syndrome +   
Maxillofacial Dysostosis 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
An eye disease where one or both eyeballs are abnormally small. (DO)
Mollica Pavone Antener Syndrome 
MOMES Syndrome 
MORM Syndrome  
Nephrotic Syndrome with Ocular Anomalies 
neurodevelopmental disorder with eye movement abnormalities and ataxia  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
Neuromuscular Oculoauditory Syndrome  
NEUROOCULAR SYNDROME  
oblique facial clefting 1  
ocular hypertension +   
ocular hypotension +   
ocular motility disease +   
Ocular Neovascularization +   
ocular sarcoidosis 
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
ophthalmia nodosa 
ophthalmomyiasis 
optic nerve disease +   
orbital disease +   
Pena Shokeir Syndrome Type 2 
Persistence of Pupillary Membrane 
persistent hyperplastic primary vitreous +   
PHACE Association  
philophthalmiasis 
Pierson syndrome  
popliteal pterygium syndrome +   
Prepapillary Vascular Loops 
pupil disease +   
refractive error +   
retinal disease +   
Retinal Dysplasia +   
Rozin Hertz Goodman Syndrome 
Schmid-Fraccaro Syndrome  
scleral disease +   
scotoma +   
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Stromme syndrome  
torsion dystonia with onset in infancy  
toxocariasis +   
uveal disease +   
Vision Disorders +   
visual pathway disease +   
vitreous detachment +   
vitreous disease +   

Synonyms
Exact Synonyms: anophthalmia/microphthalmia ;   microphthalmos
Narrow Synonyms: BILATERAL MICROPHTHALMOS ;   COMPLEX MICROPHTHALMIA ;   UNILATERAL MICROPHTHALMOS ;   simple microphthalmos
Primary IDs: MESH:D008850
Xrefs: EFO:0005569 ;   GARD:12085 ;   ICD10CM:Q11.2 ;   ICD9CM:743.1 ;   NCI:C98989 ;   OMIM:PS251600
Definition Sources: http://en.wikipedia.org/wiki/Microphthalmia "DO" "DO", http://ghr.nlm.nih.gov/condition/microphthalmia "DO" "DO"

paths to the root