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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
Hereditary Eye Diseases +     
iris disease +     
3MC syndrome 1  
ablepharon macrostomia syndrome  
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome  
Alacrima +   
Albinism +   
aniridia +   
An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Asymmetric Short Stature Syndrome 
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
ataxia-oculomotor apraxia type 4  
Axenfeld-Rieger syndrome +   
basal laminar drusen  
Basel-Vanagaite-Smirin-Yosef syndrome  
bestrophinopathy  
blepharophimosis +   
Blue Diaper Syndrome 
Bothnia retinal dystrophy  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
bradyopsia +   
Brittle Cornea Syndrome +   
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Chemke Oliver Mallek Syndrome 
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroidal Effusions +  
Choroideremia +   
chromosome 6pter-p24 deletion syndrome 
ciliary body disease +  
CODAS syndrome  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
cone-rod dystrophy +   
Congenital Alacrima +   
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital fibrosis of the extraocular muscles 5  
Congenital Mydriasis +   
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
cryptophthalmia +   
De Hauwere Leroy Adriaenssens syndrome 
De Hauwere syndrome  
DeSanto-Shinawi syndrome  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
Duane retraction syndrome +   
Duane-radial ray syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
EDICT Syndrome  
Egg-Shaped Pupil 
enhanced S-cone syndrome  
exfoliation syndrome  
exudative vitreoretinopathy +   
FACES Syndrome 
familial benign fleck retina  
Floriform Cataract 
Foveal Hypoplasia +   
foveal hypoplasia 2  
Foveal Hypoplasia with Anterior Segment Anomalies 
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
Glaucoma 1, Open Angle, P  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Graves ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
Heterochromia Iridis  
High Hyperopia  
Histiocytic Dermatoarthritis 
hydrophthalmos +   
intellectual developmental disorder with ocular anomalies and distinctive facial features  
Iridocorneal Endothelial Syndrome +  
iridocyclitis +   
iridogoniodysgenesis syndrome +   
Iris Hypoplasia and Glaucoma 
Iris Neoplasms +  
Iris Pigment Epithelium Anomalies 
iritis 
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 8  
Joubert syndrome 9  
Kapur Toriello Syndrome  
Leber congenital amaurosis +   
Maxillofacial Dysostosis 
megalocornea +   
Microcephaly and Chorioretinopathy +   
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES 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  
NEUROOCULAR SYNDROME  
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Pena Shokeir Syndrome Type 2 
Peripapillary Atrophy, Beta Type 
Persistence of Pupillary Membrane 
persistent hyperplastic primary vitreous +   
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
PHACE Association  
Pierson syndrome  
pigmented paravenous chorioretinal atrophy  
popliteal pterygium syndrome +   
PORETTI-BOLTSHAUSER SYNDROME  
Prepapillary Vascular Loops 
primary congenital glaucoma +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant  
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe +   
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Rozin Hertz Goodman Syndrome 
Schmid-Fraccaro Syndrome  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Stromme syndrome  
torsion dystonia with onset in infancy  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-Linked Macular Dystrophy +   

Synonyms
Exact Synonyms: AN ;   absent iris ;   aplasia of iris ;   congenital aniridia ;   irideremia ;   isolated aniridia
Narrow Synonyms: CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY ;   atypical aniridia
Primary IDs: MESH:D015783
Xrefs: EFO:0004132 ;   GARD:5816 ;   ICD10CM:Q13.1 ;   ICD9CM:743.45 ;   MONDO:0019172 ;   NCI:C84563 ;   OMIM:PS106210 ;   ORDO:250923
Definition Sources: https://medlineplus.gov/genetics/condition/aniridia/ "DO" "DO"

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