Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
anterior segment dysgenesis (DOID:0060648)
Annotations: Rat: (27) Mouse: (30) Human: (32) Chinchilla: (23) Bonobo: (27) Dog: (27) Squirrel: (26) Pig: (27)
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
monogenic disease +     
sclerocornea +     
3MC syndrome 1  
ablepharon macrostomia syndrome  
Alport syndrome +   
aniridia +   
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)
Asymmetric Short Stature Syndrome 
autosomal genetic disease +   
Axenfeld-Rieger syndrome +   
Bartter disease +   
basal laminar drusen  
Basel-Vanagaite-Smirin-Yosef syndrome  
blepharophimosis +   
Blue Diaper Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brittle Cornea Syndrome +   
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Chemke Oliver Mallek Syndrome 
chondrodysplasia punctata +   
Choroidal Effusions +  
chromosome 6pter-p24 deletion syndrome 
ciliopathy +   
CODAS syndrome  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
cone-rod dystrophy +   
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
cryptophthalmia +   
De Hauwere syndrome 
Desanto-Shinawi Syndrome  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
erythrokeratodermia variabilis +   
exudative vitreoretinopathy +   
FACES Syndrome 
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
fetal akinesia deformation sequence syndrome +   
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
gene duplication disease +   
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
hereditary combined deficiency of vitamin K-dependent clotting factors +   
hydrophthalmos +   
hypochondrogenesis  
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
iridogoniodysgenesis syndrome +   
isolated microphthalmia 4  
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 9  
Kapur Toriello Syndrome 
lambda 5 deficiency 
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
Maxillofacial Dysostosis 
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES Syndrome 
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Nephrotic Syndrome with Ocular Anomalies 
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
Noonan syndrome +   
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Opitz-GBBB syndrome +   
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
Pena Shokeir Syndrome Type 2 
persistent hyperplastic primary vitreous +   
PHACE Association  
Pierson syndrome  
popliteal pterygium syndrome +   
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
Prepapillary Vascular Loops 
primary congenital glaucoma +   
Pupillary Membrane, Persistence of 
Retinal Dysplasia +   
Ritscher-Schinzel syndrome +   
Rozin Hertz Goodman Syndrome 
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Schmid-Fraccaro Syndrome  
Sclerocornea, Autosomal Dominant 
SHOX-related short stature  
Stromme syndrome  
torsion dystonia with onset in infancy  
X-linked monogenic disease +   
Y-linked monogenic disease +   

Synonyms
Exact Synonyms: ASMD ;   ASOD ;   anterior segment anomalies ;   anterior segment developmental anomaly ;   anterior segment mesenchymal dysgenesis ;   anterior segment ocular dysgenesis ;   corneal opacification and other ocular anomalies ;   corneal opacification with other ocular anomalies ;   sclerocornea with other ocular anomalie ;   sclerocornea with other ocular anomalies
Narrow Synonyms: anterior segment anomalies and cataract
Primary IDs: MESH:C537775
Alternate IDs: DOID:0060605
Xrefs: GARD:10025 ;   OMIM:PS107250 ;   ORDO:88632
Definition Sources: https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "DO"

paths to the root