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Ontology Browser
Term:
LMNA-related cardiocutaneous progeria syndrome (EFO:MONDO:0018203)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
8q24.3 microdeletion syndrome 
acrogeria 
acroosteolysis-keloid-like lesions-premature aging syndrome 
Alagille syndrome +  
alveolar capillary dysplasia with misalignment of pulmonary veins 
atrial conduction disease 
atrial heart septal defect +   
atrioventricular block +   
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 
Brugada syndrome +   
cardiac anomalies - developmental delay - facial dysmorphism syndrome 
cardiac valvular dysplasia, X-linked 
Char syndrome 
CHARGE syndrome 
CHIME syndrome 
COG1-congenital disorder of glycosylation 
congenital heart defects, multiple types, 3 
congenital heart defects, multiple types, 5 
congenital vertebral-cardiac-renal anomalies syndrome +  
coronary artery disease, autosomal dominant 2 
de Barsy syndrome +  
dextro-looped transposition of the great arteries +  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 
Ehlers-Danlos syndrome, cardiac valvular type 
Ehlers-Danlos syndrome, musculocontractural type 
Ellis-van Creveld syndrome 
familial atrial fibrillation +  
familial atrial myxoma 
familial atrioventricular septal defect +  
familial bicuspid aortic valve 
familial cardiomyopathy +  
familial long QT syndrome +   
familial retinal arterial macroaneurysm 
familial sick sinus syndrome +   
Flynn-Aird syndrome 
GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes +  
Hallermann-Streiff syndrome 
heart defects-limb shortening syndrome 
Holt-Oram syndrome +  
hypoplastic left heart syndrome +  
inherited mitral valve disease +  
Larsen-like syndrome, B3GAT3 type 
LMNA-related cardiocutaneous progeria syndrome 
A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
mandibular hypoplasia-deafness-progeroid syndrome 
MGAT2-congenital disorder of glycosylation 
orthostatic intolerance 
patent ductus arteriosus 2 
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 
PDA1 
pericardial effusion, chronic 
Peters plus syndrome 
progeroid syndrome +  
Progeroid syndrome, Petty type 
progressive familial heart block +  
pulmonary hypertension, primary, autosomal recessive 
Sengers syndrome 
severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 
short QT syndrome +  
sinoatrial node dysfunction and deafness 
structural congenital heart disease, multiple types - GATA4 +  
supravalvular aortic stenosis 
TARP syndrome 
telomere syndrome +   
transketolase deficiency 
tricuspid atresia 
ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 
ventricular fibrillation, paroxysmal familial, type 1 
ventricular septal defect +  
ventricular tachycardia, familial +  

Synonyms
Exact Synonyms: LCPS ;   Orphanet:363618 ;   http://identifiers.org/medgen/1667690 ;   http://linkedlifedata.com/resource/umls/id/C4750858
Alternate IDs: MONDO:0018203
Xrefs: GARD:21555 ;   MEDGEN:1667690 ;   ORDO:363618 ;   UMLS:C4750858
Definition Sources: Orphanet:363618

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