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Ontology Browser

Term:
46,XX sex reversal 1 (DOID:0111761)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (0) Dog: (1) Squirrel: (0) Pig: (1)
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  
A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. (DO)
46,XX sex reversal 2  
46,XX sex reversal 3 
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  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
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 9  
Erythropoietic Protoporphyria, X-Linked Dominant  
female-restricted syndromic X-linked intellectual disability 99  
focal dermal hypoplasia  
fragile X syndrome +   
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 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: 46,XX SEX REVERSAL, SRY-POSITIVE ;   SRXX1 ;   SRY-positive XX male
Narrow Synonyms: 46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE ;   OVOTESTICULAR DISORDER OF SEX DEVELOPMENT ;   OVOTESTICULAR DSD
Primary IDs: OMIM:400045
Xrefs: NCI:C179867
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15378545 "DO" "DO"

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