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. [ Orphanet:97229 ]

Synonyms: 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

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537111 (Orphanet:97229/e)
  • GARD:9993 (MONDO:GARD)
  • SCTID:699866005 (MONDO:equivalentTo)
  • UMLS:C4551777 (MONDO:equivalentTo)
  • DOID:0050694 (MONDO:equivalentTo)
  • Orphanet:97229 (OMIM:211530)
  • OMIMPS:211530 (https://orcid.org/0000-0002-6601-2165)
  • MEDGEN:1634394 (MONDO:equivalentTo)
  • NORD:1960 (MONDO:NORD)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

abbreviation
BVVLS1 [ https://omim.org/entry/211530 MONDO:Lexical ]

abbreviation
BVVLS [ GARD:0009993 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml

http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml

exactMatch

http://linkedlifedata.com/resource/umls/id/C4551777

http://identifiers.org/snomedct/699866005

http://identifiers.org/medgen/1634394

https://omim.org/phenotypicSeries/PS211530

http://www.orpha.net/ORDO/Orphanet_97229

http://purl.obolibrary.org/obo/DOID_0050694

http://identifiers.org/mesh/C537111

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

seeAlso

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

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml