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Ontology Browser

Term:
syndromic microphthalmia 12 (DOID:0111800)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
Gillespie syndrome  
hypophosphatasia +   
linear skin defects with multiple congenital anomalies 1  
McCune Albright syndrome  
progeria +   
Robinow syndrome +   
septooptic dysplasia +   
syndromic microphthalmia 1 +   
syndromic microphthalmia 10 
syndromic microphthalmia 11  
syndromic microphthalmia 12  
A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2. (DO)
syndromic microphthalmia 13  
syndromic microphthalmia 14  
syndromic microphthalmia 2  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic microphthalmia 9  
thrombophilia due to thrombomodulin defect  
Weill-Marchesani syndrome +   

Synonyms
Exact Synonyms: MCOPS12 ;   Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects
Primary IDs: OMIM:615524
Xrefs: GARD:13235
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17506106 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24075189 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.