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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  
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 +   
Frank-Ter Haar syndrome  
frontometaphyseal dysplasia +   
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  
Melnick-Needles syndrome  
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  
An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. (DO)
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: Andre syndrome ;   Cranioorodigital Syndrome ;   FPO ;   Faciopalatoosseous syndrome ;   OPD II Syndrome ;   OPD Syndrome 2 ;   OPD Syndrome, Type 2 ;   OPD2 ;   Oto-Palato-Digital Syndrome, Type 2 ;   cranio-oro-digital syndrome
Primary IDs: MESH:C538089
Alternate IDs: MIM:304120
Xrefs: GARD:5802 ;   ORDO:90652
Definition Sources: https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15654694 "DO" "DO"

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