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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
46,XX sex reversal 1  
46,XX sex reversal 3 
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
CHILD syndrome  
Christianson syndrome  
chromosome Xp11.23-p11.22 duplication syndrome 
Coffin-Lowry syndrome  
congenital disorder of glycosylation type IIa  
Congenital Disorder of Glycosylation Type IIaa  
congenital disorder of glycosylation type IIb  
Congenital Disorder of Glycosylation Type IIbb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIm  
A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
Congenital Disorder of Glycosylation Type IIr  
Congenital Disorder of Glycosylation Type IIt  
Congenital Disorder of Glycosylation Type IIv  
Congenital Disorder of Glycosylation Type IIw  
Congenital Disorder of Glycosylation Type IIy  
Congenital Disorder of Glycosylation Type IIz  
congenital nystagmus 5 
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 5  
craniofrontonasal syndrome  
Danon disease  
deafness, dystonia, and cerebral hypomyelination  
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 100  
developmental and epileptic encephalopathy 101  
developmental and epileptic encephalopathy 102  
developmental and epileptic encephalopathy 103  
developmental and epileptic encephalopathy 104  
developmental and epileptic encephalopathy 105  
developmental and epileptic encephalopathy 106  
developmental and epileptic encephalopathy 107  
developmental and epileptic encephalopathy 108  
developmental and epileptic encephalopathy 109  
developmental and epileptic encephalopathy 11  
developmental and epileptic encephalopathy 110  
Developmental and Epileptic Encephalopathy 111  
Developmental and Epileptic Encephalopathy 112  
Developmental and Epileptic Encephalopathy 113  
Developmental and Epileptic Encephalopathy 114  
Developmental and Epileptic Encephalopathy 115  
Developmental and Epileptic Encephalopathy 116  
developmental and epileptic encephalopathy 12  
developmental and epileptic encephalopathy 13  
developmental and epileptic encephalopathy 14  
developmental and epileptic encephalopathy 15  
developmental and epileptic encephalopathy 16  
developmental and epileptic encephalopathy 17  
developmental and epileptic encephalopathy 18  
developmental and epileptic encephalopathy 19  
developmental and epileptic encephalopathy 2  
developmental and epileptic encephalopathy 21  
developmental and epileptic encephalopathy 23  
developmental and epileptic encephalopathy 24  
developmental and epileptic encephalopathy 25  
developmental and epileptic encephalopathy 26  
developmental and epileptic encephalopathy 27  
developmental and epileptic encephalopathy 28  
developmental and epileptic encephalopathy 29  
developmental and epileptic encephalopathy 3  
developmental and epileptic encephalopathy 30  
developmental and epileptic encephalopathy 31A  
developmental and epileptic encephalopathy 31B  
developmental and epileptic encephalopathy 32  
developmental and epileptic encephalopathy 33  
developmental and epileptic encephalopathy 34  
developmental and epileptic encephalopathy 35  
developmental and epileptic encephalopathy 36  
developmental and epileptic encephalopathy 37  
developmental and epileptic encephalopathy 38  
developmental and epileptic encephalopathy 39  
developmental and epileptic encephalopathy 4  
developmental and epileptic encephalopathy 40  
developmental and epileptic encephalopathy 41  
developmental and epileptic encephalopathy 42  
developmental and epileptic encephalopathy 43  
developmental and epileptic encephalopathy 44  
developmental and epileptic encephalopathy 45  
developmental and epileptic encephalopathy 46  
developmental and epileptic encephalopathy 47  
developmental and epileptic encephalopathy 48  
developmental and epileptic encephalopathy 49  
developmental and epileptic encephalopathy 5  
developmental and epileptic encephalopathy 50  
developmental and epileptic encephalopathy 51  
developmental and epileptic encephalopathy 52  
developmental and epileptic encephalopathy 53  
developmental and epileptic encephalopathy 54  
developmental and epileptic encephalopathy 55  
developmental and epileptic encephalopathy 56  
developmental and epileptic encephalopathy 57  
developmental and epileptic encephalopathy 58  
developmental and epileptic encephalopathy 59  
developmental and epileptic encephalopathy 60  
developmental and epileptic encephalopathy 61  
developmental and epileptic encephalopathy 62  
developmental and epileptic encephalopathy 63  
developmental and epileptic encephalopathy 64  
developmental and epileptic encephalopathy 65  
developmental and epileptic encephalopathy 66  
developmental and epileptic encephalopathy 67  
developmental and epileptic encephalopathy 68  
developmental and epileptic encephalopathy 69  
developmental and epileptic encephalopathy 6B  
developmental and epileptic encephalopathy 7  
developmental and epileptic encephalopathy 70  
developmental and epileptic encephalopathy 71  
developmental and epileptic encephalopathy 72  
developmental and epileptic encephalopathy 73  
developmental and epileptic encephalopathy 74  
developmental and epileptic encephalopathy 75  
developmental and epileptic encephalopathy 76  
developmental and epileptic encephalopathy 78  
developmental and epileptic encephalopathy 79  
developmental and epileptic encephalopathy 8  
developmental and epileptic encephalopathy 80  
developmental and epileptic encephalopathy 81  
developmental and epileptic encephalopathy 82  
developmental and epileptic encephalopathy 83  
developmental and epileptic encephalopathy 84  
developmental and epileptic encephalopathy 85  
developmental and epileptic encephalopathy 86  
developmental and epileptic encephalopathy 87  
developmental and epileptic encephalopathy 88  
developmental and epileptic encephalopathy 89  
developmental and epileptic encephalopathy 9  
developmental and epileptic encephalopathy 90  
developmental and epileptic encephalopathy 91  
developmental and epileptic encephalopathy 92  
developmental and epileptic encephalopathy 93  
developmental and epileptic encephalopathy 94  
developmental and epileptic encephalopathy 95  
developmental and epileptic encephalopathy 96  
developmental and epileptic encephalopathy 97  
developmental and epileptic encephalopathy 98  
developmental and epileptic encephalopathy 99  
Dravet syndrome  
Erythropoietic Protoporphyria, X-Linked Dominant  
female-restricted syndromic X-linked intellectual disability 99  
focal dermal hypoplasia  
fragile X syndrome +   
immunodeficiency 47  
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
linear skin defects with multiple congenital anomalies 3  
Lisch epithelial corneal dystrophy  
microcephaly, seizures, and developmental delay  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
multiple congenital anomalies-hypotonia-seizures syndrome 4  
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
non-syndromic X-linked intellectual disability 1  
non-syndromic X-linked intellectual disability 107  
non-syndromic X-linked intellectual disability 19  
non-syndromic X-linked intellectual disability 2 
non-syndromic X-linked intellectual disability 41  
non-syndromic X-linked intellectual disability 63  
non-syndromic X-linked intellectual disability 89 
non-syndromic X-linked intellectual disability 91  
non-syndromic X-linked intellectual disability 98  
nonphotosensitive trichothiodystrophy 5  
orofaciodigital syndrome I  
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
primary ovarian insufficiency 2A  
Raynaud-Claes syndrome  
reducing body myopathy 1A  
syndromic microphthalmia 2  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2 +   
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 

Synonyms
Exact Synonyms: CDG IIm ;   CDG syndrome type IIm ;   CDG2M ;   CDGIIm ;   DEE22 ;   EIEE22 ;   SLC35A2-CDG ;   congenital disorder of glycosylation type 2M ;   developmental and epileptic encephalopathy 22 ;   early infantile epileptic encephalopathy 22
Primary IDs: OMIM:300896
Alternate IDs: DOID:0080469
Xrefs: GARD:12403 ;   ORDO:356961
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23561849 "DO" "DO"

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