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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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FAZIO-LONDE DISEASE vs Brown-Vialetto-van Laere syndrome #127

Closed cmungall closed 3 years ago

cmungall commented 6 years ago

https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy

Riboflavin transporter deficiency neuronopathy encompasses two conditions that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The two conditions have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that they are forms of a single disorder.

id: MONDO:0008891
name: riboflavin transporter deficiency
def: "Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy." [Orphanet:97229]
subset: malformation_syndrome {source="Orphanet:97229"}
synonym: "Brown-Vialetto-van Laere syndrome" EXACT [Orphanet:97229]
synonym: "BROWN-VIALETTO-VAN LAERE SYNDROME 1" RELATED [MONDO:Lexical, OMIM:211530]
synonym: "BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1" RELATED [OMIM:211530]
synonym: "Brown-Vialetto-Van Laere Syndrome type 1" EXACT [MONDORULE:1, OMIM:211530]
synonym: "Bulbar Palsy, Progressive, With Sensorineural Deafness" RELATED [OMIM:211530]
synonym: "BVVLS1" RELATED [MONDO:Lexical, OMIM:211530]
synonym: "Pontobulbar Palsy With Deafness" RELATED [OMIM:211530]
synonym: "Sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229]
xref: ICD10:G12.1 {source="Orphanet:97229", source="ORDO:97229/ntbt", source="ORDO:97229/attributed"}
xref: MESH:C537111 {source="Orphanet:97229", source="ORDO:97229/e"}
xref: OMIM:211500 {source="Orphanet:97229", source="MONDO:superClassOf"}
xref: OMIM:211530 {source="Orphanet:97229", source="MONDO:Leader", source="ORDO:97229/e", source="MONDO:equivalentTo"}
xref: OMIM:614707 {source="Orphanet:97229", source="ORDO:97229/btnt", source="MONDO:superClassOf"}
xref: Orphanet:97229 {source="OMIM:211530", source="MONDO:equivalentTo"}
xref: UMLS:C0796274 {source="Orphanet:97229", source="OMIM:211530", source="ORDO:97229/e"}
xref: UMLS:CN029849 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"}
is_a: MONDO:0000406 {source="DC-OMIM:211530", source="OMIM:211530"} ! brown-Vialetto-van Laere syndrome
is_a: MONDO:0016114 {source="Orphanet:97229"} ! bulbospinal muscular atrophy of childhood
is_a: MONDO:0019589 {source="Orphanet:97229"} ! syndromic genetic deafness
relationship: disease_has_basis_in_dysfunction_of NCBIGene:113278 {source="mim2gene_medgen"}
name: progressive bulbar palsy
def: "Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms." [https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy]
subset: gard_rare {source="GARD:0010928"}
synonym: "Bulbar Palsy, Progressive, of Childhood" RELATED [OMIM:211500]
synonym: "FAZIO-LONDE DISEASE" RELATED [OMIM:211500]
synonym: "Progressive bulbar atrophy" RELATED [GARD:0010928]
xref: COHD:436684 {source="MONDO:equivalentTo"}
xref: DOID:681 {source="EFO:0003783", source="MONDO:equivalentTo"}
xref: EFO:0003783 {source="MONDO:equivalentTo"}
xref: GARD:0010928 {source="MONDO:equivalentTo"}
xref: ICD10:G12.22 {source="DOID:681", source="MONDO:equivalentTo"}
xref: ICD9:335.22 {source="EFO:0003783", source="DOID:681"}
xref: MESH:D010244 {source="MONDO:ontobio", source="EFO:0003783", source="DOID:681", source="MONDO:equivalentTo"}
xref: NCIT:C85026 {source="MONDO:kboom-pr-0.97/0.92/0.47", source="EFO:0003783", source="DOID:681", source="MONDO:equivalentTo"}
xref: OMIM:211500 {source="MONDO:Leader", source="EFO:0003783", source="MONDO:equivalentTo"}
xref: Orphanet:56965 {source="OMIM:211500"}
xref: SCTID:230547002 {source="DOID:681"}
xref: SCTID:54304004 {source="EFO:0003783", source="DOID:681"}
xref: UMLS:C0015708 {source="OMIM:211500"}
xref: UMLS:C0030442 {source="DOID:681", source="MONDO:equivalentTo"}
xref: UMLS:C0393540 {source="NCBI:mim2gene_medline"}
is_a: MONDO:0002782 {source="NCIT:C85026"} ! cranial nerve palsy
is_a: MONDO:0006496 {source="EFO:0003783"} ! palsy
relationship: disease_has_basis_in_dysfunction_of NCBIGene:113278 {source="mim2gene_medgen"}
relationship: disease_has_location CL:0000100 {source="EFO:0000784"} ! motor neuron
property_value: confidence "0.5" xsd:double
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy xsd:anyURI {source="GARD:0010928"}

note also that we have an instance of the prototype problem here. We need to distinguish between RTD and RTD1.

we also have

id: MONDO:0000406
name: brown-Vialetto-van Laere syndrome
xref: DOID:0050694 {source="MONDO:Leader", source="MONDO:equivalentTo"}
xref: OMIM:211530 {source="DOID:0050694", source="MONDO:superClassOf"}
xref: OMIMPS:211530 {source="MONDO:cjm", source="MONDO:equivalentTo"}
nicolevasilevsky commented 6 years ago

I am not sure I follow - should MONDO:0008891 riboflavin transporter deficiency and MONDO_0008890 progressive bulbar palsy be merged? If yes, I haven't actually merged terms before in MONDO, could you give me some instructions?

@GARDInfoCenter The GARD link on MONDO:0000406 brown-Vialetto-van Laere syndrome does not exist and redirects to https://rarediseases.info.nih.gov/

Seems like maybe MONDO:0000406 brown-Vialetto-van Laere syndrome is the same as MONDO:0008891 riboflavin transporter deficiency too?

cmungall commented 6 years ago

I am not sure I follow - should MONDO:0008891 riboflavin transporter deficiency and MONDO_0008890 progressive bulbar palsy be merged

That is what I suspect!

If yes, I haven't actually merged terms before in MONDO, could you give me some instructions

I can take care of it for now, I just need someone to validate that this is clinically correct

The GARD link on MONDO:0000406 brown-Vialetto-van Laere syndrome does not exist

I'll bet this was fixed in GARD recently. I got this from an API call in December.

GARDInfoCenter commented 6 years ago

GARD does list "Brown-Vialetto-van Laere syndrome" as a synonym for Riboflavin transporter deficiency. I must note that this change was made in 2015.

See:

Orphanet page - http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12856&Disease_Disease_Search_diseaseGroup=brown&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Riboflavin-transporter-deficiency&title=Riboflavin-transporter-deficiency&search=Disease_Search_Simple

Articles: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820599/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3891447/

Let me know if you need anything else from our end.

Maria

kanems commented 3 years ago

I think this term may need to have a couple children split out... I realize these are all related/on a spectrum and similar, but SNOMED and UMLS still distinguish the childhood form from the general form: SCITD: 230246005 "Progressive bulbar palsy of childhood" and UMLS C0393540, which would map to OMIM 211500 ("Fazio-Londe" disease) so maybe set the Fazio-Londe concept as a child of the progressive bulbar palsy term?

nicolevasilevsky commented 3 years ago

thanks @kanems, we'll look into this. :)

nicolevasilevsky commented 3 years ago

@kanems I see what you mean and that makes sense. I'll split out the childhood term.