Check Orphanet cross-references for Parkinson's disease

[sbello]

Is your request related to a specific disease? Please describe. Parkinson's disease (DOID:14330) and child terms

Describe the proposed change(s) Parkinson's disease has the xref ORDO:2828 this is Young-onset Parkinson disease and this has the synonym 'Early-onset Parkinson disease' Parkinson's disease in DO has a child term for 'early-onset Parkinson's disease' that is defined as prior to 50 years of age. This seems like a better match to the Orphanet term than the parent

early-onset Parkinson's disease (DOID:0060894) has the Orphanet xref ORDO:391411 that is for Atypical juvenile parkinsonism

Atypical juvenile parkinsonism has OMIM xrefs 615528 (PARK19A, DOID:0060891) and 615530 (PARK20, DOID:0060898). There is a term for juvenile-onset Parkinson's disease (DOID:0060893) in DO. This term has no xrefs

DOID:0060891 has xref ORDO:391411

juvenile-onset Parkinson's disease (DOID:0060893), PARK19A (DOID:0060891), and PARK20 (DOID:0060898) are currently siblings in DO

I would suggest

• remove ORDO:2828 as an xref to DOID:14330 and make it an xref to DOID:0060894
• remove ORDO:391411 as an xref to DOID:0060894
• review the relationship between juvenile-onset Parkinson's disease (DOID:0060893), PARK19A (DOID:0060891), and PARK20 (DOID:0060898), should these be child terms to juvenile onset instead of siblings?
• review the relationship between the DO term juvenile-onset Parkinson's disease and the Orphanet term Atypical juvenile parkinsonism, are these the same thing? Or should DO add a new term for Atypical juvenile parkinsonism and make PARK19A and PARK20 child terms to this?

[csbjohnson]

Thank you very much for your request, Sue (@sbello). We will review your request.

Wishing you a wonderful rest of your day!

Best, Claudia Marie Sánchez-Beato Johnson

[lschriml]

--> reviewed and updated DOID to Orphaned ID xref mappings

for Early-onset Parkinson disease' added synonym: Young-onset Parkinson disease

-- early-onset Parkinson's disease (DOID:0060894) has Orphanet xref [ORDO:391411] that is for Atypical juvenile parkinsonism --> this Orphaned ID is annotated on Parkinson's disease 19A DOID:0060891 this is: OMIM:615528

Interesting that Orphaned is using "Parkinsonism' rather than "Parkinson's"

for: Atypical juvenile parkinsonism (ORPHA:391411) definition: A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

--Mapping to Parkinson's 19A and 20 subtypes in OMIM --> For now, I would stick with OMIM's subtyping, rather than Orphanet's, which seems to be in progress. The atypical term seems to be an interim term that they devised.

Cheers, Lynn