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Term:
linear skin defects with multiple congenital anomalies 3 (DOID:0111876)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
cardiomyopathy +     
MLS syndrome +     
46,XX sex reversal 1  
46,XX sex reversal 3 
alcoholic cardiomyopathy  
alpha thalassemia-X-linked intellectual disability syndrome  
amelogenesis imperfecta type 1E  
Ataxia, Deafness, and Cardiomyopathy 
Atrial Dilation and Standstill +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Chagas Cardiomyopathy  
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  
Diabetic Cardiomyopathies  
early infantile epileptic encephalopathy 36  
Early-Onset Myopathy with Fatal Cardiomyopathy  
endocardial fibroelastosis +   
endomyocardial fibrosis  
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
focal dermal hypoplasia +   
fragile X syndrome +   
Hypertaurinuric Cardiomyopathy 
infantile histiocytoid cardiomyopathy  
intrinsic cardiomyopathy +   
Kearns-Sayre syndrome  
Keshan disease  
linear skin defects with multiple congenital anomalies 1  
linear skin defects with multiple congenital anomalies 2  
linear skin defects with multiple congenital anomalies 3  
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3. (DO)
Lisch epithelial corneal dystrophy 
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
Muscular Dystrophy, Cardiac Type 
Myocardial Reperfusion Injury  
myocarditis +   
myofibrillar myopathy 2  
Nance-Horan syndrome  
neurodegeneration with brain iron accumulation 5  
nonphotosensitive trichothiodystrophy 5  
orofaciodigital syndrome I  
otopalatodigital syndrome type 1  
otopalatodigital syndrome type 2  
reducing body myopathy 1A  
Roifman Syndrome  
Sengers syndrome  
syndromic microphthalmia 2  
systemic primary carnitine deficiency disease  
Uruguay Faciocardiomusculoskeletal Syndrome  
X-linked Alport syndrome  
X-linked chondrodysplasia punctata 2  
X-linked dominant hypophosphatemic rickets  
X-linked endothelial corneal dystrophy 

Synonyms
Exact Synonyms: LSDMCA3 ;   linear skin defects with cardiomyopathy and other congenital anomalies
Primary IDs: OMIM:300952
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/25772934/ "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.