Terminology Service for NFDI4Health
JSON

riboflavin transporter deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0008891

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

Term info

Label

riboflavin transporter deficiency

Synonyms
  • Brown-Vialetto-van Laere syndrome
  • Fazio-Londe syndrome
  • disorder of riboflavin transmembrane transporter activity
  • riboflavin transmembrane transporter activity disease
  • sensorineural hearing loss-pontobulbar palsy syndrome
database cross reference
Subsets

ordo_malformation_syndrome

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 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

narrowMatch

https://icd.codes/icd10cm/G12.1

see also

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