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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Alpha-2-Deficient Collagen Disease 
Anetoderma +   
arterial tortuosity syndrome  
autoimmune disease of skin and connective tissue +   
bone development disease +   
bone disease +   
Bone Fragility with Contractures, Arterial Rupture, and Deafness  
bullous skin disease +   
cartilage disease +   
cellulitis +   
chronic interstitial cystitis 
collagen disease +   
Congenital Fascial Dystrophy 
congenital heart disease +   
congenital structural myopathy +   
congenital vertical talus  
Congenital, Hereditary, and Neonatal Diseases and Abnormalities +   
Connective Tissue Neoplasms +   
cutaneous lupus erythematosus +   
cutis laxa +   
dental pulp disease +   
dermatomyositis +   
Dupuytren Contracture +  
enthesopathy +  
fasciitis +   
fetal akinesia deformation sequence syndrome +   
fibrodysplasia ossificans progressiva  
funisitis 
Ganglion Cysts 
homocystinuria +   
hyaline fibromatosis syndrome  
interstitial keratitis +  
interstitial lung disease +   
Language Development Disorders +   
Lipedema 
lipodystrophy +   
Marden-Walker Syndrome  
mediastinitis +  
mucinoses +   
Neurodevelopmental Disorders +   
Noonan syndrome +   
ochronosis +   
Osteopoikilosis +   
Peyronie's disease  
plantar fascial fibromatosis 
pseudoxanthoma elasticum +   
RADIO-TARTAGLIA SYNDROME  
RAUCH-STEINDL SYNDROME  
rheumatic disease +   
Stickler syndrome +   
synovitis +   
systemic lupus erythematosus +   
Thrombocytopenia 8  
VISS syndrome  
This disease is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay.
Volkmann contracture 
Yoon-Bellen neurodevelopmental syndrome  

Synonyms
Exact Synonyms: IPO8-RELATED AORTOPATHY ;   IPO8-RELATED CONDITION ;   VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY ;   VISS
Primary IDs: OMIM:619472
Xrefs: NCI:C198610
Definition Sources: OMIM:619472

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