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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
46,XX Gonadal Dysgenesis Epibulbar Dermoid 
46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal 
46,XX sex reversal 1  
46,XX sex reversal 2  
46,XX sex reversal 3 
A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. (DO)
46,XX sex reversal 4  
46,XX sex reversal 5  
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
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 IIm  
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 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  
female-restricted Wieacker-Wolff syndrome  
focal dermal hypoplasia  
fragile X syndrome +   
Holoprosencephaly 13, X-linked  
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
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  
ovarian dysgenesis 1  
ovarian dysgenesis 10  
Ovarian Dysgenesis 11  
ovarian dysgenesis 2 +   
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
ovarian dysgenesis 8  
ovarian dysgenesis 9  
Palmoplantar Hyperkeratosis and True Hermaphroditism  
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal  
Perrault Syndrome 1  
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: CHROMOSOME Xq26 DUPLICATION SYNDROME ;   SRXX3
Narrow Synonyms: 46,XX SEX REVERSAL, SOX3-CHROMOSOME Xq26 DELETION SYNDROME
Primary IDs: MIM:300833
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/21183788 "DO" "DO"

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