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riboflavin transporter deficiency

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Disease Ontology Description An autosomal dominant disease that is characterized by progressive bulbar palsies with sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0008891:  riboflavin transporter deficiency
GARD:0009993: 
MESH:C537111: 
OMIMPS:211530: 
Orphanet:97229: 
SCTID:699866005: