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Ontology Browser
Term:
normophosphatemic familial tumoral calcinosis (DOID:0080170)
Annotations: Rat: (1) Mouse: (0) Human: (1) Chinchilla: (1) Bonobo: (0) Dog: (0) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
calcinosis +     
basal ganglia calcification +   
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 
Calcific Aortic Disease with Immunologic Abnormalities, Familial 
Calcification of Aortic Valve +   
calciphylaxis 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Choroid Plexus Calcification with Mental Retardation 
Cole Disease  
CREST syndrome  
diffuse idiopathic skeletal hyperostosis +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epilepsy, Occipital Calcifications 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
Greenberg dysplasia  
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts  
hereditary arterial and articular multiple calcification syndrome +   
hyperphosphatemic familial tumoral calcinosis +   
Keutel Syndrome  
Labrune Syndrome  
Medial Coronary Sclerosis of Infancy  
nephrocalcinosis +   
Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification 
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
normophosphatemic familial tumoral calcinosis  
A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. (DO)
Ossified Ear Cartilages 
Piepkorn Karp Hickok syndrome 
Primrose Syndrome  
Pseudo-TORCH Syndrome +   
pulmonary alveolar microlithiasis  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications +   
Rambaud Galian Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
Schofer Beetz Bohl Syndrome 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Storm Syndrome 
Tropical Calcific Pancreatitis  
Vascular Calcification +   
Whyte Murphy Fallon Sly syndrome 

Synonyms
Exact Synonyms: NFTC ;   tumoral calcinosis with normophosphatemia
Broad Synonyms: familial tumoral calcinosis
Primary IDs: MESH:C566473
Alternate IDs: OMIM:610455
Xrefs: GARD:10878
Definition Sources: https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/21160498 "DO" "DO"

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