[NTR/gene] ALPL-related autosomal recessive hypophosphatasia

[RyanFWebb]

Preferred gene-related syndrome label
ALPL-related autosomal recessive hypophosphatasia

Synonyms

Parent term (use OLS, or your favorite ontology browser)
hypophosphatasia

Definition
Any autosomal recessive hypophosphatasia in which the cause of the disease is loss-of-function in the ALPL gene.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
On behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
'moderate hypophosphatasia'
'odontohypophosphatasia'
'perinatal lethal hypophosphatasia'
'severe hypophosphatasia'

Your nano-attribution (ORCID) or URL for a working group
ClinGen's Skeletal Disorders Gene Curation Expert Panel

[nicolevasilevsky]

Hi @RyanFWebb thanks for your ticket.

Is this new term related to any of these terms?

• 'mild hypophosphatasia'
• 'moderate hypophosphatasia'
• odontohypophosphatasia
• 'perinatal lethal hypophosphatasia'
• 'severe hypophosphatasia'

(See related ticket: #2906)

[nicolevasilevsky]

@sabrinatoro I'd like to discuss this on the curation call:

• For background, you'd need to review this old ticket: Proposed Change to Subclassifications of Hypophosphatasia #2906 (or I can review everything on the curation call)

• 'mild hypophosphatasia' is now a synonym for OMIM:146300 Hypophosphatasia, adult. It looks like after we changed this in Mondo, OMIM added the synonym (based on the dates of the GitHub ticket above and the date the record was updated in OMIM)

• I'm not totally certain though if we should add OMIM term as a synonym and as an xref to the 'mild hypo' term because the definition says "Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood."

• Note, the other similar OMIM classes do not have similar synonyms that line up with the ClinGen terms

• I am surprised we obsoleted these OMIM terms though, maybe we should revisit this ticket: Proposed Change to Subclassifications of Hypophosphatasia #2906

  • maybe I just not remembering correctly but I feel like we wouldn't want to obsolete an OMIM that is still being used by OMIM

[RyanFWebb]

@nicolevasilevsky I've updated the disease term to be consistent with the term for autosomal dominant hypophosphatasia.

Additionally, 'moderate hypophosphatasia', 'odontohypophosphatasia', 'perinatal lethal hypophosphatasia', and 'severe hypophosphatasia' would be listed as children.