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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  
Astley-Kendall Syndrome 
autosomal dominant chondrodysplasia punctata +  
Charcot-Marie-Tooth disease X-linked dominant 1  
Charcot-Marie-Tooth disease X-linked dominant 6  
CHILD syndrome  
Chondrodysplasia Punctata with Coagulation Factor Deficiency 
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  
focal dermal hypoplasia  
fragile X syndrome +   
Holoprosencephaly 13, X-linked  
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  
Pacman Dysplasia 
primary ovarian insufficiency 2A  
Raynaud-Claes syndrome  
reducing body myopathy 1A  
rhizomelic chondrodysplasia punctata +   
syndromic microphthalmia 2  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 1  
X-linked chondrodysplasia punctata 2 +   
A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. (DO)
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 

Synonyms
Exact Synonyms: CDPX2 ;   CDPXD ;   CPXD ;   Conradi Hunermann Syndrome ;   Conradi Hünermann Happle syndrome ;   Conradi Hünermann Syndrome ;   Conradi-Hunermann-Happle Syndrome ;   Happle syndrome ;   X-linked dominant chondrodysplasia punctata 2
Narrow Synonyms: atypical X-linked dominant chondrodysplasia punctata 2
Xrefs: MIM:302960 ;   MONDO:0020603
Definition Sources: https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 "DO" "DO"

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