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Ontology Browser

Term:
X-linked chondrodysplasia punctata 2 (DOID:0080352)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
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 
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  
early infantile epileptic encephalopathy 36  
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  
Pacman Dysplasia 
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 H√ľnermann Happle Syndrome ;   Conradi H√ľnermann Syndrome ;   Conradi-Hunermann-Happle Syndrome ;   Happle Syndrome ;   X-linked dominant chondrodysplasia punctata 2
Narrow Synonyms: atypical X-linked dominant chondrodysplasia punctata 2
Primary IDs: OMIM:302960
Alternate IDs: RDO:0004391
Definition Sources: https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 "DO"

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