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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  
Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay 
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 IIm  
congenital nystagmus 5 
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 2  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
Cornelia de Lange syndrome 5  
A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. (DO)
Cornelia de Lange Syndrome 6  
craniofrontonasal syndrome  
Danon disease  
deafness, dystonia, and cerebral hypomyelination  
developmental and epileptic encephalopathy 2  
developmental and epileptic encephalopathy 36  
developmental and epileptic encephalopathy 85  
developmental and epileptic encephalopathy 9  
Erythropoietic Protoporphyria, X-Linked Dominant  
female-restricted syndromic X-linked intellectual disability 99  
focal dermal hypoplasia  
fragile X syndrome +   
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  
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: CDLS5 ;   HDAC8-RELATED CONDITION
Primary IDs: OMIM:300882
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22889856 "DO" "DO"

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