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central nervous system calcification-deafness-tubular acidosis-anemia syndrome
Disease Summary
Associated Targets ()
Mondo Description This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family.
Mondo Term and Equivalent IDs
MONDO:0017924: central nervous system calcification-deafness-tubular acidosis-anemia syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:3240
UMLS:CN204056
MONDO:0017924
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