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riboflavin transporter deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008891

A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. [ Orphanet:97229 ]

Term info

database cross reference
  • GARD:0009993 (MONDO:equivalentTo)
  • OMIMPS:211530 (MONDO:equivalentTo)
  • DOID:0050694 (MONDO:equivalentTo)
  • MESH:C537111 (Orphanet:97229/e)
  • SCTID:699866005 (MONDO:equivalentTo)
  • Orphanet:97229 (OMIM:211530)
Subsets

ordo_malformation_syndrome

abbreviation
BVVLS1 [ OMIM:211530 MONDO:Lexical ]

abbreviation
BVVLS [ GARD:0009993 ]

definition

A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

exactMatch

http://identifiers.org/snomedct/699866005, https://omim.org/phenotypicSeries/PS211530, http://purl.obolibrary.org/obo/DOID_0050694, http://identifiers.org/mesh/C537111, http://purl.obolibrary.org/obo/Orphanet_97229

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019589, http://purl.obolibrary.org/obo/MONDO_0016114

has exact synonym

Brown-Vialetto-van Laere syndrome, riboflavin transmembrane transporter activity disease, disorder of riboflavin transmembrane transporter activity, Fazio-Londe syndrome, sensorineural hearing loss-pontobulbar palsy syndrome

has narrow synonym

Brown-Vialetto-Van Laere syndrome 1

has related synonym

BVVLS, BVVLS1, progressive bulbar palsy with sensorineural deafness, pontobulbar palsy and neurosensory deafness

id

MONDO:0008891

seeAlso

https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency