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Ontology Browser

Term:
osteogenesis imperfecta type 14 (DOID:0110343)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
monogenic disease +     
Al Gazali Sabrinathan Nair Syndrome 
Alport syndrome +   
amyotrophic lateral sclerosis +   
Astley-Kendall Syndrome 
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Bruck syndrome +   
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
chondrodysplasia punctata +   
ciliopathy +   
Cole-Carpenter syndrome +   
cone-rod dystrophy +   
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
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  
erythrokeratodermia variabilis +   
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 +   
gene duplication disease +   
gnathodiaphyseal dysplasia  
Grant Syndrome 
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 
isolated microphthalmia 4  
lambda 5 deficiency 
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
Lowry Maclean syndrome 
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Noonan syndrome +   
OI/EDS Combined Syndrome  
Opitz-GBBB syndrome +   
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 10  
osteogenesis imperfecta type 11  
osteogenesis imperfecta type 12  
osteogenesis imperfecta type 13  
osteogenesis imperfecta type 14  
An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)
osteogenesis imperfecta type 15  
osteogenesis imperfecta type 16  
osteogenesis imperfecta type 17  
osteogenesis imperfecta type 18  
osteogenesis imperfecta type 19  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 20  
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteogenesis imperfecta type 6  
osteogenesis imperfecta type 7  
osteogenesis imperfecta type 8  
osteogenesis imperfecta type 9  
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 
Osteopenic Nonfracture Syndrome 
osteoporosis-pseudoglioma syndrome  
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary congenital glaucoma +   
Ritscher-Schinzel syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
X-linked monogenic disease +   
Y-linked monogenic disease +   

Synonyms
Exact Synonyms: OI, type XIV ;   OI14 ;   osteogenesis imperfecta type XIV
Primary IDs: OMIM:615066
Alternate IDs: RDO:0016142
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23054245 "DO"

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